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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

American journal of medical genetics. Part A - 1 Apr 2023

Akalın Akçahan, Şimşek-Kiper Pelin Özlem, Taşkıran Ekim Z, Karaosmanoğlu Beren, Utine Gülen Eda, Boduroğlu Koray

Abstract excerpt

Primordial dwarfism (PD) is one of a highly heterogeneous group of disorders characterized by severe prenatal/postnatal growth restriction. Defects in various pathways such as DNA repair mechanism, impaired centrioles, abnormal IGF expression, and spliceosomal machinery may cause PD including Seckel syndrome, Silver-Russell syndrome. Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, II, and...

Topics

Male
Osteochondrodysplasias
Microcephaly
Female
Pregnancy
Humans
Dwarfism
Adaptor Proteins, Signal Transducing
Phenotype
Mutation
Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36630262
DOI: 10.1002/ajmg.a.63120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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