Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

about

Comparative study on three different methods for arm-span measurement: the Japan environment and Children's study pilot.

P2860

Q46981085-88739542-2214-46C8-B892-BD5BC9DFAA82

P2860

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Item

http://www.wikidata.org/entity/Q36509549

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@ast

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@en

type

Item

label

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@ast

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@en

prefLabel

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@ast

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@en

P1476

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

@en

P2093

Ajlan Tükün

http://www.w3.org/2001/XMLSchema#string

Ceyhun Dizdarer

http://www.w3.org/2001/XMLSchema#string

Filiz Hazan

http://www.w3.org/2001/XMLSchema#string

Hüseyin Anıl Korkmaz

http://www.w3.org/2001/XMLSchema#string

P2860

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

Clinical and genetic heterogeneity of hypochondroplasia

The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans

Growth hormone therapy in hypochondroplasia.

The frequency of mental retardation in hypochondroplasia.

Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

Hypochondroplasia: clinical and radiological aspects in 39 cases.

P304

220-222

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.4274/JCRPE.787

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2012-11-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

233411047

http://www.w3.org/2001/XMLSchema#string

P698

23149434

http://www.w3.org/2001/XMLSchema#string

P932

3537291

http://www.w3.org/2001/XMLSchema#string

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

about

P2860

P2860

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932