Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Research Abstract Details 

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Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Abstract Text:

Karen Minzer-Conzetti,Erica Wu,Karin Vargervik,Anne Slavotinek,Karen Minzer-Conzetti,Erica Wu,Karin Vargervik,Anne Slavotinek,

We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. This patient had facial asymmetry, ptosis and downslanting palpebral fissures and multiple joint involvement, with bilateral hip dysplasia, reduced elbow supination, vertical tali and talipes in addition to the classical findings of trismus and pseudocamptodactyly. These findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Publishing Authors By Initials

K Minzer-Conzetti,E Wu,K Vargervik,A Slavotinek,K Minzer-Conzetti,E Wu,K Vargervik,A Slavotinek,

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Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Clinical dysmorphology

VOLUME: 17

Page Numbers: 1-4

Journal Abbreviation: Clin. Dysmorphol.

ISSN: 0962-8827

DAY: 30

MONTH: Jan

YEAR: 2008

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Information

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LANGUAGE: eng

NlmUniqueID: 9207893

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AFFILIATION: aDepartment of Pediatrics, Division of Genetics, University of California, San Francisco bCenter for Craniofacial Anomalies, University of California San Francisco, San Francisco, California, USA.

Country: England

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MEDLINETA: Clin Dysmorphol

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