An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

Toni Pearson; Fiona Curtis; Ayman Al-Eyadhy; Salem Al-Tamemi; Bruce Mazer; Yigal Dror; Sharon Abish; Sherri Bale; John Compton; Reena Ray; Patrick Scott; Vazken M. Der Kaloustian

doi:10.1002/ajmg.a.32412

An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

Toni Pearson, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott, Vazken M. Der Kaloustian

Research output: Contribution to journal › Letter › peer-review

19 Scopus citations

Original language	English
Pages (from-to)	2159-2161
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	16
DOIs	https://doi.org/10.1002/ajmg.a.32412
State	Published - 15 Aug 2008
Externally published	Yes

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10.1002/ajmg.a.32412

Cite this

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title = "An intronic mutation in dkc1 in an infant with h{\o}yeraal-hreidarsson syndrome",

author = "Toni Pearson and Fiona Curtis and Ayman Al-Eyadhy and Salem Al-Tamemi and Bruce Mazer and Yigal Dror and Sharon Abish and Sherri Bale and John Compton and Reena Ray and Patrick Scott and {Der Kaloustian}, {Vazken M.}",

year = "2008",

month = aug,

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doi = "10.1002/ajmg.a.32412",

language = "English",

volume = "146",

pages = "2159--2161",

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

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number = "16",

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TY - JOUR

T1 - An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

AU - Pearson, Toni

AU - Curtis, Fiona

AU - Al-Eyadhy, Ayman

AU - Al-Tamemi, Salem

AU - Mazer, Bruce

AU - Dror, Yigal

AU - Abish, Sharon

AU - Bale, Sherri

AU - Compton, John

AU - Ray, Reena

AU - Scott, Patrick

AU - Der Kaloustian, Vazken M.

PY - 2008/8/15

Y1 - 2008/8/15

UR - http://www.scopus.com/inward/record.url?scp=49449113473&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.32412

DO - 10.1002/ajmg.a.32412

M3 - Letter

C2 - 18627054

AN - SCOPUS:49449113473

SN - 1552-4825

VL - 146

SP - 2159

EP - 2161

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 16

ER -