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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mutat
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2012
विषय:
Article
ऑनलाइन पहुंच: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
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन