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Publications by Musharraf Jelani

Deletion Mutation in BSCL2 Gene Underlies Congenital Generalized Lipodystrophy in a Pakistani Family

Diagnostic Pathology

Forensic Medicine

English

Novel Missense Alteration in LRP4 Gene Underlies Cenani‐Lenz Syndactyly Syndrome in a Consanguineous Family

Journal of Gene Medicine

Molecular Medicine

Molecular Biology

English

Related publications

Congenital Generalized Lipodystrophy

Jornal de Pediatria

English

Exogenous Insulin Ameliorates Acanthosis Nigricans in Congenital Generalized Lipodystrophy

Pediatric Research

English

Type 2 Congenital Generalized Lipodystrophy: The Diagnosis Is in Your Hands

Journal of Pediatrics

English

The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation

Internal Medicine

English

Aggressive Papillary Thyroid Carcinoma in a Child With Type 2 Congenital Generalized Lipodystrophy

Archives of endocrinology and metabolism

English

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

Clinical Genetics

English

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics

Molecular Medicine

English

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

English

Generalized Lipodystrophy

English