Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Limb body wall complex (LBWC) and amniotic band sequence (ABS) are multiple congenital anomaly conditions with craniofacial, limb, and ventral wall defects. LBWC and ABS are considered separate entities by some, and a continuum of severity of the same condition by others. The etiology of LBWC/ABS re...

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Detalles Bibliográficos
Autores principales: Kruszka, Paul, Uwineza, Annette, Mutesa, Leon, Martinez, Ariel F, Abe, Yu, Zackai, Elaine H, Ganetzky, Rebecca, Chung, Brian, Stevenson, Roger E, Adelstein, Robert S, Ma, Xuefei, Mullikin, James C, Hong, Sung-Kook, Muenke, Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585450/
https://www.ncbi.nlm.nih.gov/pubmed/26436108
http://dx.doi.org/10.1002/mgg3.153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585450/
https://www.ncbi.nlm.nih.gov/pubmed/26436108
http://dx.doi.org/10.1002/mgg3.153

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