التفاصيل البيبلوغرافية
| العنوان: |
A Family with Craniofrontonasal Syndrome ; The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate |
| المؤلفون: |
Inoue, Yoshikazu, Sakamoto, Yoshiaki, Sugimoto, Masanori, Inagaki, Hidehito, Boda, Hiroko, Miyata, Masafumi, Kato, Hideteru, Kurahashi, Hiroki, Okumoto, Takayuki |
| المصدر: |
The Cleft Palate-Craniofacial Journal ; volume 55, issue 7, page 1026-1029 ; ISSN 1055-6656 1545-1569 |
| بيانات النشر: |
SAGE Publications |
| سنة النشر: |
2018 |
| مصطلحات موضوعية: |
Otorhinolaryngology, Oral Surgery |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1597/15-347 |
| الإتاحة: |
https://doi.org/10.1597/15-347Test |
| حقوق: |
http://journals.sagepub.com/page/policies/text-and-data-mining-licenseTest |
| رقم الانضمام: |
edsbas.7C01BAD |
| قاعدة البيانات: |
BASE |
