Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

Liaqat, K., Hussain, S., Acharya, A., Nasir, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes, 13(4), 662. https://doi.org/10.3390/genes13040662
Authors:
Khurram Liaqat
Shabir Hussain
Anushree Acharya
Abdul Nasır
Thashi Bharadwaj
Muhammad Ansar
Sulman Basit
Isabelle Schrauwen
Wasim Ahmad
Suzanne M. Leal
Affiliated Authors:
Khurram Liaqat
Anushree Acharya
Thashi Bharadwaj
Isabelle Schrauwen
Suzanne M. Leal
Author Keywords:
atypical gaucher disease
hearing impairment
exome sequencing
saposin c
Publication Type:
Article
Unique ID:
10.3390/genes13040662
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex

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