Bosley–Salih–Alorainy syndrome in patients from India

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 tw...

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Bibliographic Details
Published in:American Journal of Medical Genetics Part A
Main Authors: Patil, Siddaramappa J., Karthik, Gadabanahalli Ashok, Bhavani, Gandham SriLakshmi, Bhat, Venkatraman, Matalia, Jyoti, Shah, Jhanvi, Shukla, Anju, Girisha, Katta Mohan
Format: Article in Journal/Newspaper
Language:English
Published: Wiley 2020
Subjects:
Indian
Athabascan
Online Access:http://dx.doi.org/10.1002/ajmg.a.61809
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61809
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61809
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Summary: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.

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