Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Item
http://www.wikidata.org/entity/Q41456958
A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome.A molecular and clinical study of Larsen syndrome caused by mutations in FLNBPhenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patientsMutations responsible for Larsen syndrome cluster in the FLNB protein.Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.Atelosteogenesis type I: autopsy findings.Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Prenatal sonographic features of fetal atelosteogenesis type 1.Dysplastic histogenesis of cartilage growth plate by alteration of sulphation pathway: a transgenic model.Prenatal diagnosis of boomerang dysplasia.
P2860

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Item
http://www.wikidata.org/entity/Q41456958
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
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
@en
type
label
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
@en
prefLabel
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P698