popliteal pterygium syndrome, lethal type

An autosomal recessive condition (OMIM:263650) characterised by multiple popliteal pterygia with severe arthrogryposis; ankyloblepharon filiforme adnatum; filiform bands between the jaws; synostosis of the carpal/tarsal and phalanges of the hands and feet; digital hypoplasia or aplasia; soft-tissue syndactyly; lack of nails; lack of scalp hair, eyebrows and eyelashes; blepharophimosis; cleft lip and/or palate; and hypoplastic external genitalia. Early death is common, though survival beyond childhood may occur.
Molecular pathology
Defects of RIPK4, which encodes a serine/threonine protein kinase, cause popliteal pterygium syndrome, lethal type.

单词	popliteal pterygium syndrome, lethal type
释义	popliteal pterygium syndrome, lethal type popliteal pterygium syndrome, lethal type An autosomal recessive condition (OMIM:263650) characterised by multiple popliteal pterygia with severe arthrogryposis; ankyloblepharon filiforme adnatum; filiform bands between the jaws; synostosis of the carpal/tarsal and phalanges of the hands and feet; digital hypoplasia or aplasia; soft-tissue syndactyly; lack of nails; lack of scalp hair, eyebrows and eyelashes; blepharophimosis; cleft lip and/or palate; and hypoplastic external genitalia. Early death is common, though survival beyond childhood may occur. Molecular pathology Defects of RIPK4, which encodes a serine/threonine protein kinase, cause popliteal pterygium syndrome, lethal type.
随便看	hif1b hif-1-beta hif-1beta hif1-beta hif1beta hifa hifabp hifac hifalutin hifalutinly hifar hifazate khatme nabuwat andolon hifbs hifca hifcs hifd hifd disk hife hifeac hi-fes hiff hifh hif.hir hi fi hi-fi