Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis (Q56354457)

object named as

Maria R Passos-Bueno

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author name string

Rosa Andrea Pardo Vargas

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Gustavo Henrique Boff Maegawa

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Silvia Castillo Taucher

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Júlio César L Leite

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Patricia Sanz

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Juan Cifuentes

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Mauro Parra

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Hernán Muñoz

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Carlos Magno Maranduba

American Journal of Medical Genetics

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language of work or name

English

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publication date

15 August 2003

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published in

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volume

121A

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issue

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page(s)

41-6

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cites work

Beare-Stevenson cutis gyrata syndrome

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A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation

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A simple salting out procedure for extracting DNA from human nucleated cells

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Leprechaunism in a male infant

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Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20101

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20101