Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

C.P. Barnett, E.J. Todd, Royston Ong, M.R. Davis, V. Atkinson, Richard Allcock, Nigel Laing, Gina Ravenscroft

Research output: Contribution to journalLetter

9 Citations (Scopus)
Original languageEnglish
Pages (from-to)1846-1849
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number7
DOIs
Publication statusPublished - 2014

Cite this

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title = "Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1",
author = "C.P. Barnett and E.J. Todd and Royston Ong and M.R. Davis and V. Atkinson and Richard Allcock and Nigel Laing and Gina Ravenscroft",
year = "2014",
doi = "10.1002/ajmg.a.36342",
language = "English",
volume = "164",
pages = "1846--1849",
journal = "Am J Med Genet A",
issn = "0148-7299",
publisher = "Wiley-Liss",
number = "7",

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Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. / Barnett, C.P.; Todd, E.J.; Ong, Royston; Davis, M.R.; Atkinson, V.; Allcock, Richard; Laing, Nigel; Ravenscroft, Gina.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 7, 2014, p. 1846-1849.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

AU - Barnett, C.P.

AU - Todd, E.J.

AU - Ong, Royston

AU - Davis, M.R.

AU - Atkinson, V.

AU - Allcock, Richard

AU - Laing, Nigel

AU - Ravenscroft, Gina

PY - 2014

Y1 - 2014

U2 - 10.1002/ajmg.a.36342

DO - 10.1002/ajmg.a.36342

M3 - Letter

VL - 164

SP - 1846

EP - 1849

JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

IS - 7

ER -