Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay

Darya Gorbenko del Blanco; Laura de Graaff; Theo Visser; Anita Hokken - Koelega

doi:10.1111/j.1365-2265.2011.04304.x

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay

Darya Gorbenko del Blanco
, Laura de Graaff
, Theo Visser
, Anita Hokken - Koelega

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

7 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	706-712
Number of pages	7
Journal	Clinical Endocrinology
Volume	76
DOIs	https://doi.org/10.1111/j.1365-2265.2011.04304.x
Publication status	Published - 2012

Research programs

EMC MM-01-39-03
EMC MM-01-54-01

Access to Document

10.1111/j.1365-2265.2011.04304.x

http://hdl.handle.net/1765/60139

Cite this

@article{f5462f5a96a24dfba7f92d42d8f0c32c,

title = "Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay",

author = "\{Gorbenko del Blanco\}, Darya and \{de Graaff\}, Laura and Theo Visser and \{Hokken - Koelega\}, Anita",

year = "2012",

doi = "10.1111/j.1365-2265.2011.04304.x",

language = "Undefined/Unknown",

volume = "76",

pages = "706--712",

journal = "Clinical Endocrinology",

issn = "0300-0664",

publisher = "Wiley-Blackwell Publishing Ltd",

}

TY - JOUR

T1 - Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay

AU - Gorbenko del Blanco, Darya

AU - de Graaff, Laura

AU - Visser, Theo

AU - Hokken - Koelega, Anita

PY - 2012

Y1 - 2012

U2 - 10.1111/j.1365-2265.2011.04304.x

DO - 10.1111/j.1365-2265.2011.04304.x

M3 - Article

C2 - 22117696

SN - 0300-0664

VL - 76

SP - 706

EP - 712

JO - Clinical Endocrinology

JF - Clinical Endocrinology

ER -