Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

doi:10.1111/cge.14550

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Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Clinical genetics - 1 Sept 2024

Khan Fati Ullah, Khan Hammal, Ullah Kifayat, Nawaz Shoaib, Abdullah, Khan Muhammad Javed, Ahmed Sohail, Ilyas Muhammad, Ali Amjad, Ullah Imran, Sohail Aamir, Hussain Shabir, Ahmad Farooq, Faisal, Sufyan Raza, Hayat Amir, Hanif Tooba, Bibi Fatima, Hayat Maria, Ullah Rehmat, Khan Inam Ullah, Ali Raja Hussain, Hasni Muhammad Sharif, Ali Hamid, Bilal Muhammad, Peralta Susana, Buchert Rebecca, Zehri Zamrud, Hassan Gul, Liaqat Khurrum, Zahid Muhammad, Shah Khadim, Mikitie Outi, Haack Tobias B, Ji Weizhen, Lakhani Saquib A, Ansar Muhammad, Ahmad Wasim

Abstract excerpt

Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the...

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PMID: 38774940
DOI: 10.1111/cge.14550

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HSPG2
XRCC4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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