Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).
about
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature.Mutations in the human UBR1 gene and the associated phenotypic spectrum.Oblique facial clefts in Johanson-Blizzard syndrome
P2860
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Two siblings with exocrine pan ...... d Johanson-Blizzard syndrome).
@en
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations
@nl
type
label
Two siblings with exocrine pan ...... d Johanson-Blizzard syndrome).
@en
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations
@nl
prefLabel
Two siblings with exocrine pan ...... d Johanson-Blizzard syndrome).
@en
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations
@nl
P1476
Two siblings with exocrine pan ...... d Johanson-Blizzard syndrome).
@en
P2093
P304
P356
10.1097/00005176-199709000-00020
P407
P577
1997-09-01T00:00:00Z