Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family

Acromesomelic dysplasias (AMDs) are rare skeletal disorders marked by disproportionate shortening of middle and distal limb segments. Among these, AMD Maroteaux type (AMDM), is commonly associated with mutations in NPR2 gene. However, mutations in the Indian Hedgehog (IHH) gene have been linked to s...

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Autors principals:	Hanif M, Ahmad B, Farman S, Hassan S, Hayat A, Bibi N, Kalsoom U, Khan B
Format:	Artigo
Idioma:	Inglês
Publicat:	Sciendo 2026-05-01
Col·lecció:	Balkan Journal of Medical Genetics
Matèries:	acromesomelic maroteaux type autosomal recessive homozygous missense variant ihh gene
Accés en línia:	https://doi.org/10.2478/bjmg-2025-00024
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