التفاصيل البيبلوغرافية
| العنوان: |
A Family with Craniofrontonasal Syndrome. |
| المؤلفون: |
Inoue, Yoshikazu, Sakamoto, Yoshiaki, Sugimoto, Masanori, Inagaki, Hidehito, Boda, Hiroko, Miyata, Masafumi, Kato, Hideteru, Kurahashi, Hiroki, Okumoto, Takayuki |
| المصدر: |
Cleft Palate Craniofacial Journal; Aug2018, Vol. 55 Issue 7, p1026-1029, 4p |
| مصطلحات موضوعية: |
CLEFT palate, CLEFT lip, CRANIOFACIAL abnormalities, JAPANESE people, GENETICS |
| مصطلحات جغرافية: |
JAPAN |
| مستخلص: |
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate. Here, we describe a Japanese family with three cases of CFNS expressing bilateral cleft lip and palate. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
