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Article

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

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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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