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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Ltd 2015
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4585450/
https://ncbi.nlm.nih.gov/pubmed/26436108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.153
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg