Article
Expanding the genetic heterogeneity of intellectual disability.
Human genetics - 1 Nov 2017
Anazi Shams, Maddirevula Sateesh, Salpietro Vincenzo, Asi Yasmine T, Alsahli Saud, Alhashem Amal, Shamseldin Hanan E, AlZahrani Fatema, Patel Nisha, Ibrahim Niema, Abdulwahab Firdous M, Hashem Mais, Alhashmi Nadia, Al Murshedi Fathiya, Al Kindy Adila, Alshaer Ahmad, Rumayyan Ahmed, Al Tala Saeed, Kurdi Wesam, Alsaman Abdulaziz, Alasmari Ali, Banu Selina, Sultan Tipu, Saleh Mohammed M, Alkuraya Hisham, Salih Mustafa A, Aldhalaan Hesham, Ben-Omran Tawfeg, Al Musafri Fatima, Ali Rehab, Suleiman Jehan, Tabarki Brahim, El-Hattab Ayman W, Bupp Caleb, Alfadhel Majid, Al Tassan Nada, Monies Dorota, Arold Stefan T, Abouelhoda Mohamed, Lashley Tammaryn, Houlden Henry, Faqeih Eissa, Alkuraya Fowzan S
Abstract excerpt
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which...
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