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Article

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

American journal of medical genetics. Part A - 1 Dec 2015

Mumtaz Sara, Yıldız Esra, Jabeen Saliha, Khan Amjad, Tolun Aslıhan, Malik Sajid

Abstract excerpt

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild...

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Source

Identifiers

PMID: 26333564
DOI: 10.1002/ajmg.a.37299

Genes

RBBP8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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