A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.
Saima MustafaMalik Fiaz HussainMuhammad LatifMaryam IjazMuhammad AsifMubashir HassanMuhammad FaisalFurhan IqbalPublished in: Genes (2022)
gene that caused Brachyolmia in a consanguineous Pakistani family.