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Schimke XLID syndrome results from a deletion in BCAP31

Autor: Roger E. Stevenson, Cindy Skinner, Debra L. Collins, Michael J. Friez, Charles E. Schwartz, Raymond J. Louie

Publikováno v: American Journal of Medical Genetics Part A. 182:2168-2174

A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected mal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::76e13744d1a1b0e21c56a97804c4b21f
https://doi.org/10.1002/ajmg.a.61755

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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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Macroorchidism as presenting feature of Fragile X syndrome

Autor: Sriram Karthik T, Amaresh Reddy P, Radha Rani P, Maheshwari R, Rajendra Prasad N, Bharath R

Publikováno v: Journal of Clinical and Scientific Research, Vol 2, Iss 2, Pp 108-109 (2013)

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability.1 We report the case of a 6-yearold boy who presented with the complaints of excessive cry and increased testicular volume, during the preceding six months. Physic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156a7264abfb98c9507775659ad13c62
https://doi.org/10.15380/2277-5706.jcsr.12.067

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Brachydactyly type C associated with shortening of the hallux

Autor: A. L. H. Moss, J. M. Rowe-Jones, M. A. Patton

Publikováno v: Journal of medical genetics. 29(5)

A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shortening of the big toes and, in addition, had

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25e15b5dfc55d5949774d11612e0552
https://pubmed.ncbi.nlm.nih.gov/1583664

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