Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
about
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@en
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@nl
type
label
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@en
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@nl
prefLabel
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@en
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@nl
P2093
P2860
P356
P1476
Shwachman-Diamond syndrome pre ...... nctive clinical SDS phenotype.
@en
P2093
Anne-Catherine Connerotte
Armand Biver
Athanassios Kolivras
Chantal Ceuterick-de Groote
Emmanuel Scalais
Jean-Pierre Hachem
Karine Despontin
Linda De Meirleir
Marielle Alders
P2860
P304
P356
10.1002/AJMG.A.37673
P407
P577
2016-04-29T00:00:00Z