X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-B...

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Detalles Bibliográficos
Autores principales: Cho, Hyun-Jung, Shin, Mee-Yong, Ahn, Kang-Mo, Lee, Sang Il, Kim, Hee-Jin, Ki, Chang-Seok, Kim, Jong-Won
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2006
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721984/
https://www.ncbi.nlm.nih.gov/pubmed/17043407
http://dx.doi.org/10.3346/jkms.2006.21.5.790

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721984/
https://www.ncbi.nlm.nih.gov/pubmed/17043407
http://dx.doi.org/10.3346/jkms.2006.21.5.790

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