Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling-Reference-Cited by-同舟云学术

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Published:2012-03 Issue:3 Volume:90 Page:550-557
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Merrill Amy E.,Sarukhanov Anna,Krejci Pavel,Idoni Brian,Camacho Natalia,Estrada Kristine D.,Lyons Karen M.,Deixler Hannah,Robinson Haynes,Chitayat David,Curry Cynthia J.,Lachman Ralph S.,Wilcox William R.,Krakow Deborah

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

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4. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing;Meyers;Am. J. Hum. Genet.,1996

5. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome;Lajeunie;Eur. J. Hum. Genet.,2006

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