Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

J. Hogue; C. Lee; A. Jelin; Mn Strecker; Va Cox; Am Slavotinek

doi:10.1111/cge.12073

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

J. Hogue
, C. Lee
, A. Jelin
, Mn Strecker
, Va Cox
, Am Slavotinek^*

^*Corresponding author for this work

Pediatrics

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

14 Scopus citations

Original language	English
Pages (from-to)	392-393
Number of pages	2
Journal	Clinical Genetics
Volume	84
Issue number	4
DOIs	https://doi.org/10.1111/cge.12073
State	Published - Oct 2013

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@article{b33c3357a0a341eda1ca78d347b57653,

title = "Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype",

author = "J. Hogue and C. Lee and A. Jelin and Mn Strecker and Va Cox and Am Slavotinek",

year = "2013",

month = oct,

doi = "10.1111/cge.12073",

language = "English",

volume = "84",

pages = "392--393",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "4",

}

TY - JOUR

T1 - Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

AU - Hogue, J.

AU - Lee, C.

AU - Jelin, A.

AU - Strecker, Mn

AU - Cox, Va

AU - Slavotinek, Am

PY - 2013/10

Y1 - 2013/10

UR - https://www.scopus.com/pages/publications/84883746109

U2 - 10.1111/cge.12073

DO - 10.1111/cge.12073

M3 - Letter

C2 - 23278365

AN - SCOPUS:84883746109

SN - 0009-9163

VL - 84

SP - 392

EP - 393

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

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