CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

doi:10.1002/humu.21116

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Article

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Human mutation - 1 Nov 2009

Mougou-Zerelli Soumaya, Thomas Sophie, Szenker Emmanuelle, Audollent Sophie, Elkhartoufi Nadia, Babarit Candice, Romano Stéphane, Salomon Rémi, Amiel Jeanne, Esculpavit Chantal, Gonzales Marie, Escudier Estelle, Leheup Bruno, Loget Philippe, Odent Sylvie, Roume Joëlle, Gérard Marion, Delezoide Anne-Lise, Khung Suonavy, Patrier Sophie, Cordier Marie-Pierre, Bouvier Raymonde, Martinovic Jéléna, Gubler Marie-Claire, Boddaert Nathalie, Munnich Arnold, Encha-Razavi Férechté, Valente Enza Maria, Saad Ali, Saunier Sophie, Vekemans Michel, Attié-Bitach Tania

Abstract excerpt

Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting cerebellar vermian...

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PMID: 19777577
DOI: 10.1002/humu.21116
PMCID: PMC2783384

Genes

TMEM67

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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