Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features.
about
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Stüve-Wiedemann Syndrome: Update on Clinical and Genetic AspectsNull leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.Camptomelia in a rhesus macaque (Macaca mulatta).Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersMutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.Thermosensory and mechanosensory perception in human genetic disease.Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.Stüve-Wiedemann syndrome and related bent bone dysplasias.Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.Stüve-Wiedemann syndrome in a neonate.
P2860
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P2860
Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features.
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@ast
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@en
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@nl
type
label
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@ast
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@en
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@nl
prefLabel
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@ast
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@en
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@nl
P2093
P1476
Stüve-Wiedemann syndrome in ch ...... cal and radiological features.
@en
P2093
P356
10.1097/00019605-200301000-00001
P577
2003-01-01T00:00:00Z