Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

Claudia J. M. van Amen-Hellebrekers; Sandra Jansen; Alexander P. A. Stegmann; Servi J. C. Stevens; Rolph Pfundt; Bert B. A. de Vries

doi:10.1002/ajmg.a.38396

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

Claudia J. M. van Amen-Hellebrekers, Sandra Jansen, Alexander P. A. Stegmann, Servi J. C. Stevens, Rolph Pfundt, Bert B. A. de Vries^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Pages (from-to)	3238-3240
Number of pages	3
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.38396
Publication status	Published - Dec 2017

Keywords

MACS SYNDROME

Access to Document

10.1002/ajmg.a.38396

Cite this

@article{167a0c9d850a41a28dd4a64155673351,

title = "Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome",

keywords = "MACS SYNDROME",

author = "{van Amen-Hellebrekers}, {Claudia J. M.} and Sandra Jansen and Stegmann, {Alexander P. A.} and Stevens, {Servi J. C.} and Rolph Pfundt and {de Vries}, {Bert B. A.}",

year = "2017",

month = dec,

doi = "10.1002/ajmg.a.38396",

language = "English",

volume = "173",

pages = "3238--3240",

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

issn = "1552-4825",

publisher = "John Wiley & Sons Inc.",

number = "12",

}

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome. / van Amen-Hellebrekers, Claudia J. M.; Jansen, Sandra; Stegmann, Alexander P. A. et al.
In: American Journal of Medical Genetics Part A, Vol. 173, No. 12, 12.2017, p. 3238-3240.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

TY - JOUR

T1 - Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

AU - van Amen-Hellebrekers, Claudia J. M.

AU - Jansen, Sandra

AU - Stegmann, Alexander P. A.

AU - Stevens, Servi J. C.

AU - Pfundt, Rolph

AU - de Vries, Bert B. A.

PY - 2017/12

Y1 - 2017/12

KW - MACS SYNDROME

U2 - 10.1002/ajmg.a.38396

DO - 10.1002/ajmg.a.38396

M3 - Comment/Letter to the editor

SN - 1552-4825

VL - 173

SP - 3238

EP - 3240

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 12

ER -