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

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Title: Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.
Authors: Hanif, M1 (AUTHOR) hanifawkum85@gmail.com, Ahmad, B1 (AUTHOR), Farman, S1 (AUTHOR) sairafarman@awkum.edu.pk, Hassan, S2 (AUTHOR) Salmanhassan.ibms@kmu.edu.pk, Hayat, A1 (AUTHOR) aamir.hayatqau15@gmail.com, Bibi, N3 (AUTHOR) drnosheenbibi@sbbwu.edu.pk, Kalsoom, U4 (AUTHOR) kalsoom_ibrahim@hotmail.com, Khan, B1 (AUTHOR) bushrakhan@awkum.edu.pk
Source: Balkan Journal of Medical Genetics. Dec2025, Vol. 28 Issue 2, p29-40. 12p.
Database: Academic Search Ultimate
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ISSN:13110160
DOI:10.2478/bjmg-2025-00024