(Q45090072)

9 December 2017

Thanatophoric dysplasia type I with syndactyly (English)

1 reference

9 December 2017

0 references

thanatophoric dysplasia

1 reference

Brodie SG

1

1 reference

9 December 2017

Kitoh H

2

1 reference

9 December 2017

Lipson M

3

1 reference

9 December 2017

Sifry-Platt M

4

1 reference

9 December 2017

Wilcox WR

5

1 reference

9 December 2017

1 November 1998

1 reference

American Journal of Medical Genetics Part A

9 December 2017

1 reference

9 December 2017

80

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9 December 2017

3

1 reference

9 December 2017

260-262

1 reference

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

9 December 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Hands and feet in the Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

Thanatophoric dysplasia and cloverleaf skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C260%3A%3AAID-AJMG15%3E3.0.CO%3B2-S

10.1002/(SICI)1096-8628(19981116)80:3<260::AID-AJMG15>3.0.CO;2-S

21 January 2018

Identifiers

DOI

1 reference

9 December 2017

1 reference