Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

We report two consanguineous families with probands that exhibit intellectual disability, developmental delay, short stature, aphasia, and hypotonia in which homozygous non-synonymous variants were identified in IQSEC1 (GenBank: NM_001134382.3). In a Pakistani family, the IQSEC1 segregating variant...

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Библиографические подробности
Опубликовано в: :Am J Hum Genet
Главные авторы: Ansar, Muhammad, Chung, Hyung-lok, Al-Otaibi, Ali, Elagabani, Mohammad Nael, Ravenscroft, Thomas A., Paracha, Sohail A., Scholz, Ralf, Abdel Magid, Tayseer, Sarwar, Muhammad T., Shah, Sayyed Fahim, Qaisar, Azhar Ali, Makrythanasis, Periklis, Marcogliese, Paul C., Kamsteeg, Erik-Jan, Falconnet, Emilie, Ranza, Emmanuelle, Santoni, Federico A., Aldhalaan, Hesham, Al-Asmari, Ali, Faqeih, Eissa Ali, Ahmed, Jawad, Kornau, Hans-Christian, Bellen, Hugo J., Antonarakis, Stylianos E.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2019
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848997/
https://ncbi.nlm.nih.gov/pubmed/31607425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.013
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