Zobrazeno 1 - 10
of 39
pro vyhledávání: '"hypoplastic nails"'
Autor:
K Ravi, Suraj S Hegde
Publikováno v:
APIK Journal of Internal Medicine, Vol 9, Iss 3, Pp 180-182 (2021)
Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of char
Externí odkaz:
https://doaj.org/article/2c28daa80e894f609f0d62f5a9854602
Autor:
Irina Hüning, Britta Hanker, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hermann-Josef Lüdecke
Publikováno v:
European Journal of Human Genetics
Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous parents. Co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9c510ebf674ad8851ca62104def00b
http://europepmc.org/articles/PMC8738766
http://europepmc.org/articles/PMC8738766
Publikováno v:
Oman Journal of Ophthalmology, Vol 3, Iss 1, Pp 23-25 (2010)
Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autoso
Externí odkaz:
https://doaj.org/article/3edfa51f40144128a3b3800ffe861b1f
Autor:
Kara Bellai-Dussault, Nissan V. Baratang, Thi Tuyet Mai Nguyen, Philippe M. Campeau, Daniel A. Jimenez‐Cruz
Publikováno v:
Clinical genetics. 95(1)
It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)-anchor. GPI-anchored proteins (GPI-APs) play key roles, particularly in embryogenesis, neurogenesis, immune response and signal transduction. Due to their i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a516d206b7c203d59566b9b52bebcd6
https://pubmed.ncbi.nlm.nih.gov/30054924
https://pubmed.ncbi.nlm.nih.gov/30054924
Publikováno v:
Journal of Oral Biology and Craniofacial Research. 5:98-101
Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with incidence of 1:244,000 for the general population. This syndrome consists of characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e43a54f877f96ffe002c5638916f94
https://doi.org/10.1016/j.jobcr.2015.05.003
https://doi.org/10.1016/j.jobcr.2015.05.003
Publikováno v:
Indian Dermatology Online Journal
Indian Dermatology Online Journal, Vol 6, Iss 1, Pp 27-30 (2015)
Indian Dermatology Online Journal, Vol 6, Iss 1, Pp 27-30 (2015)
Huriez syndrome is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK) and hypoplastic nails. We report the case of a 25 year old male, with nonfami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c38f448b8d3ee34518264ce689db28c3
http://europepmc.org/articles/PMC4314883
http://europepmc.org/articles/PMC4314883
Autor:
Manuel Cruz-Perea, Julián Ramírez-Cheyne, Carolina Isaza, Wilmar Saldarriaga Gil, Dayhanna Luna Balcázar
Publikováno v:
Revista chilena de pediatría v.85 n.5 2014
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::054033f58dde79bbe98de7b013cee688
https://doi.org/10.4067/s0370-41062014000500008
https://doi.org/10.4067/s0370-41062014000500008
Publikováno v:
American Journal of Medical Genetics Part A. :2328-2335
To date, an interstitial deletion of 9p13 has been described only two times in the medical literature. These reports were based on routine chromosomal analysis. We report on two additional patients with an interstitial deletion of 9p13 further define
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3768d91d8bfccad5e2303c088f997796
https://doi.org/10.1002/ajmg.a.35536
https://doi.org/10.1002/ajmg.a.35536
Publikováno v:
Pediatric Dermatology. 28:507-511
Kabuki syndrome (KS) is extensively described in the literature and characterized by a typical facial gestalt in combination with postnatal short stature, hypotonia, joint laxity, developmental delay, persistent fetal fingertip pads, and an ever-grow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b833d54ebf2be0de2166c2ab2788540
https://doi.org/10.1111/j.1525-1470.2011.01495.x
https://doi.org/10.1111/j.1525-1470.2011.01495.x