Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson–Golabi–Behmel syndrome type 2 (SGBS2). We have...

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Publié dans:Hum Mutat
Auteurs principaux: Bisschoff, Izak J, Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Trine E, Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5497464/
https://ncbi.nlm.nih.gov/pubmed/23033313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22224
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