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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Publicado no:Am J Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha: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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