TY - JOUR
T1 - Bosley–Salih–Alorainy syndrome in patients from India
AU - Patil, Siddaramappa J.
AU - Karthik, Gadabanahalli Ashok
AU - Bhavani, Gandham Sri Lakshmi
AU - Bhat, Venkatraman
AU - Matalia, Jyoti
AU - Shah, Jhanvi
AU - Shukla, Anju
AU - Girisha, Katta Mohan
PY - 2020/11/1
Y1 - 2020/11/1
N2 - 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.
AB - 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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U2 - 10.1002/ajmg.a.61809
DO - 10.1002/ajmg.a.61809
M3 - Article
AN - SCOPUS:85089993383
SN - 1552-4825
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
ER -