Dost Muhammad

Larkana, SD 77150, Pakistan

Last Updated: 09/26/2026

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Found 8 publications

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Journal: European journal of dermatology : EJD

Published: April 04, 2018

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Journal: Clinical and experimental dermatology

Published: October 07, 2017

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Journal: Ophthalmic genetics

Published: January 14, 2017

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Journal: European journal of dermatology : EJD

Published: July 27, 2016

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Journal: American journal of human genetics

Published: October 14, 2015

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

Journal: International journal of dermatology

Published: September 02, 2014

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

Journal: PloS one

Published: April 17, 2014

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Journal: The Australasian journal of dermatology

Published: October 26, 2013

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Last Updated: 09/26/2026