Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
about
Multiple congenital contractures (congenital multiple arthrogryposis).Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases.Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.Lethal Multiple Pterygium Syndrome with Complete Intestinal Duplication
P2860
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
1984年论文
@zh
1984年论文
@zh-cn
name
Syndrome of multiple pterygia, ...... f multiple pterygium syndrome.
@en
type
label
Syndrome of multiple pterygia, ...... f multiple pterygium syndrome.
@en
prefLabel
Syndrome of multiple pterygia, ...... f multiple pterygium syndrome.
@en
P2093
P356
P1476
Syndrome of multiple pterygia, ...... f multiple pterygium syndrome.
@en
P2093
Rightmire D
P304
P356
10.1002/AJMG.1320170411
P577
1984-04-01T00:00:00Z