Related Experiment Video

Updated: Mar 19, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic

Shaila Sanjay Pachapure1, Akshay Kalavant B2, Santosh B Kurbet3

  • 1Department of Pediatrics (Pediatric and Adolescent Endocrinology), 29178 Jawaharlal Nehru Medical College (KAHER-KLE Academy of Higher Education and Research) , Belagavi, Karnataka, India.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|March 18, 2026
PubMed
Abstract

Keywords:
TOE1 genePCH7gonadal dysgenesispontocerebellar hypoplasia type 7sex reversal

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