A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Karen Low; James Smith; Simon Lee; Ruth Newbury-Ecob

doi:10.1002/ajmg.a.36016

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Karen Low^*, James Smith, Simon Lee, Ruth Newbury-Ecob

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

6 Citations (Scopus)

Abstract

A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis.

Original language	English
Pages (from-to)	2056-2059
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	161
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.36016
Publication status	Published - Aug 2013

Keywords

Brachydactyly
Broad hallux
Delta phalanx
Deviated toes
Hypoplastic thumbs
Pectus deformity

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@article{bda4995153db43d8aa85431d9a5a69fb,

title = "A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum",

abstract = "A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis.",

keywords = "Brachydactyly, Broad hallux, Delta phalanx, Deviated toes, Hypoplastic thumbs, Pectus deformity",

author = "Karen Low and James Smith and Simon Lee and Ruth Newbury-Ecob",

year = "2013",

month = aug,

doi = "10.1002/ajmg.a.36016",

language = "English",

volume = "161",

pages = "2056--2059",

journal = "American Journal of Medical Genetics, Part A",

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TY - JOUR

T1 - A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

AU - Low, Karen

AU - Smith, James

AU - Lee, Simon

AU - Newbury-Ecob, Ruth

PY - 2013/8

Y1 - 2013/8

N2 - A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis.

AB - A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis.

KW - Brachydactyly

KW - Broad hallux

KW - Delta phalanx

KW - Deviated toes

KW - Hypoplastic thumbs

KW - Pectus deformity

UR - http://www.scopus.com/inward/record.url?scp=84880721565&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36016

DO - 10.1002/ajmg.a.36016

M3 - Article (Academic Journal)

C2 - 23824731

AN - SCOPUS:84880721565

SN - 1552-4825

VL - 161

SP - 2056

EP - 2059

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Abstract

Keywords

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