Résultat de recherche

Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Sandrine Marlin, Jean-Laurent CASANOVA , Arnold Munnich, Valérie Cormier-Daire

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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Céline Huber, Geneviève Baujat, Kim-Hanh Le Quan Sang, Arnold Munnich, Valérie Cormier-Daire

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New perspectives on the treatment of skeletal dysplasia.

Valérie Cormier-Daire

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Olivia Boyer, Aude Servais, Olivier Gribouval, Patrick Nitschké, Corinne Antignac, Matias Simons

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