Article
Bosley-Salih-Alorainy syndrome in patients from India.
American journal of medical genetics. Part A - 1 Nov 2020
Patil Siddaramappa J, Karthik Gadabanahalli Ashok, Bhavani Gandham SriLakshmi, Bhat Venkatraman, Matalia Jyoti, Shah Jhanvi, Shukla Anju, Girisha Katta Mohan
Abstract excerpt
Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.