A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
about
Short and tall stature: a new paradigm emergesFibroblast growth factor signaling in skeletal development and diseaseCATCHing putative causative variants in consanguineous familiesThe Fibroblast Growth Factor signaling pathwayMicro CT Analysis of Spine Architecture in a Mouse Model of Scoliosis.FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.Genomic insights into growth and its disorders: an update.FGF signaling in the osteoprogenitor lineage non-autonomously regulates postnatal chondrocyte proliferation and skeletal growth.Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeA Track Record on SHOX: From Basic Research to Complex Models and TherapyGenetics and Genomic Medicine in Egypt: steady pace.Achondroplasia: Development, pathogenesis, and therapy.Genetics of Short Stature.Tall stature: a difficult diagnosis?Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.Dephosphorylation of the NPR2 guanylyl cyclase contributes to inhibition of bone growth by fibroblast growth factor.Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.Anabolic Strategies to Augment Bone Fracture Healing.
P2860
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P2860
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
description
2014 nî lūn-bûn
@nan
2014年の論文
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2014年学术文章
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2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
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2014年學術文章
@zh-hant
name
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@en
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@nl
type
label
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@en
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@nl
prefLabel
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@en
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@nl
P2860
P50
P356
P1433
P1476
A novel homozygous mutation in ...... todactyly, and arachnodactyly.
@en
P2093
Hanan Hamamy
P2860
P304
P356
10.1002/HUMU.22597
P577
2014-06-28T00:00:00Z