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Article

Co-occurrence of Jalili syndrome and muscular overgrowth.

American journal of medical genetics. Part A - 1 Aug 2017

Wawrocka Anna, Walczak-Sztulpa Joanna, Badura-Stronka Magdalena, Owecki Michal, Kopczynski Przemysław, Mrukwa-Kominek Ewa, Skorczyk-Werner Anna, Gasperowicz Piotr, Ploski Rafal, Krawczynski Maciej R

Abstract excerpt

Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers...

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Source

Identifiers

PMID: 28586144
DOI: 10.1002/ajmg.a.38318

Genes

CNNM4
DMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Co-occurrence of Jalili syndrome and muscular overgrowth.PMID 28586144Read ↗

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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.Semantic proximity Read ↗

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