Výsledky vyhledávání - "Long palpebral fissure"

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

Autor: Reza Yazdani, Molood Safarirad, Saba Fekrvand, Ali Abbaszadeh Ganji, Hassan Abolhassani, Ahmad Vosughi Motlagh, Asghar Aghamohammadi

Publikováno v: Endocrine, Metabolic & Immune Disorders - Drug Targets. 21:2099-2103

Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::825c3e147857416ddd0a0b0d58ad8a62
https://doi.org/10.2174/1871530321666210114153920

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Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

Autor: Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e20d9d3c3c613236ae7b012fff786a3
https://doi.org/10.3389/fgene.2021.766316

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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study

Autor: Dagmar Wieczorek, Bernd Wollnik, Janine Altmüller, Johanna Christina Czeschik, Alma Kuechler, Heike Kölbel, Andrea Gangfuß, Peter Nürnberg, Gökhan Yigit, Peter Burfeind, Nina Bögershausen, Ulrike Schara-Schmidt, Andreas Roos, Frank J. Kaiser

Intellectual disability (ID) has an estimated prevalence of 1.5%-2%. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that sporadic ID cases result from de novo mutations in genes associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b2b63e12ebde971a276fc709202295
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85099101656

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Kabuki syndrome: international consensus diagnostic criteria

Autor: Norio Niikawa, C. T. R. M. Stumpel, Giuseppe Merla, Nobuhiko Okamoto, Albert E. Chudley, Siddharth Banka, Andrew W. Lindsley, Jaqueline Harris, Olaf Bodamer, Hiroshi Kawame, Margaret P. Adam, Noriko Miyake, Hans T. Bjornsson, Brendan C. Lanpher

Publikováno v: Journal of Medical Genetics, 56(2), 89-95. BMJ Publishing Group
Kabuki Syndrome Medical Advisory Board 2018, ' Kabuki syndrome : international consensus diagnostic criteria ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105625

BackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b63f43aa36b93c742a50f6a383cfa5
https://doi.org/10.1136/jmedgenet-2018-105625

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Phenotype expansion and development in Kosaki overgrowth syndrome

Autor: Tomasz Gambin, Elżbieta Ciara, Donna M. Muzny, D.L. Guilbride, Magdalena Pelc, Pawel Gawlinski, Zeynep Coban-Akdemir, Małgorzata Krajewska-Walasek, J. R. Lupski, Elżbieta Jurkiewicz, Shalini N. Jhangiani, Agnieszka Różdżyńska-Świątkowska, Mateusz Dawidziuk

Publikováno v: Clinical Genetics. 93:919-924

We expand the Kosaki overgrowth syndrome (KOGS) phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G p.(Pro584Arg) mutation. Eighteen of these symptoms are uniqu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9236c8348f6dce7fac57ea438b7010
https://doi.org/10.1111/cge.13192

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Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Autor: Rabah M. Shawky, Radwa Gamal, Nayera S. Mostafa

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 18, Iss 1, Pp 87-92 (2017)
Egyptian Journal of Medical Human Genetics; Vol 18, No 1 (2017); 87-92

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cee7d1ff591f1aaeb33dd6ddb6eec272
http://www.sciencedirect.com/science/article/pii/S111086301500124X

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Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Autor: Deborah Osio, Hilde Van Esch, Hannele Koillinen, Julia Rankin, Adele Reynolds

Publikováno v: American journal of medical genetics. Part A. 176(1)

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff98fe75a030a58ead41f8c502bfbcc
https://pubmed.ncbi.nlm.nih.gov/29130599

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Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

Autor: Ariana Kariminejad, Raoul C.M. Hennekam

Publikováno v: American journal of medical genetics. Part A, 158A(11), 2756-2762. Wiley-Liss Inc.

We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed352b6ae441d9d084f88a36f3dba48
https://doi.org/10.1002/ajmg.a.35627

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Atrioventricular block and wiry hair in Teebi hypertelorism syndrome

Autor: Anne Slavotinek, Xiao-Dong Han, Vicki Cox

Publikováno v: American Journal of Medical Genetics Part A. :1960-1964

We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a thin upper lip, a grooved

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17baf33605607f64e54fa4faf5ec799a
https://doi.org/10.1002/ajmg.a.31439

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What Syndrome Is This?

Autor: Susan B. Mallory, Bernice R. Krafchik, Michelle Murphy

Publikováno v: Pediatric Dermatology. 20:173-175

A 4-year old boy, the only son of healthy, nonconsanguineous parents without a significant family history, was referred to our clinic. Pregnancy had been complicated by missed abortion and decrease in fetal movements, and he was born at term with pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f431aa16b6c6d8447bbe8b7ef9e3100e
https://doi.org/10.1046/j.1525-1470.2003.20219.x

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