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

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

13 Scopus citations

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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 - http://www.scopus.com/inward/record.url?scp=84883746109&partnerID=8YFLogxK

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 -