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Advanced filters: Author: Sohail Aziz Paracha Clear advanced filters

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Muhammad Ansar
Saima Riazuddin
Stylianos E Antonarakis
ResearchOpen Access24 Aug 2017
Genetics in Medicine

Volume: 20, P: 778-784
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Francesca Mattioli
Hossein Darvish
Muhammad Ansar
ResearchOpen Access11 Nov 2021
npj Genomic Medicine

Volume: 6, P: 1-5
FOXI3 pathogenic variants cause one form of craniofacial microsomia

Most cases of craniofacial microsomia are sporadic but familial cases have been reported. Here the authors report that variants in FOXI3 can cause a small fraction of cases with different modes of inheritance including autosomal dominant with reduced penetrance.

Ke Mao
Christelle Borel
Stylianos E. Antonarakis
ResearchOpen Access11 Apr 2023
Nature Communications

Volume: 14, P: 1-16