Bosley–Salih–Alorainy syndrome in patients from India

Siddaramappa J. Patil, Gadabanahalli Ashok Karthik, Gandham Sri Lakshmi Bhavani, Venkatraman Bhat, Jyoti Matalia, Jhanvi Shah, Anju Shukla, Katta Mohan Girisha

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 2020

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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