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Novel Mutations in GJA1 Cause Oculodentodigital Syndrome

Oculodentodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormali...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Fenwick, A., Richardson, R.J., Butterworth, J., Barron, M.J., Dixon, M.J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2008
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2588666/
https://ncbi.nlm.nih.gov/pubmed/18946008
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