Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation

Jaime J. Barea, Eline van Meel, Stuart Kornfeld, Lynne M. Bird

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

Original language	English
Pages (from-to)	2844-2846
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.37213
State	Published - Nov 2015

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title = "Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation",

author = "Barea, {Jaime J.} and {van Meel}, Eline and Stuart Kornfeld and Bird, {Lynne M.}",

year = "2015",

month = nov,

doi = "10.1002/ajmg.a.37213",

language = "English",

volume = "167",

pages = "2844--2846",

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

issn = "1552-4825",

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T1 - Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation

AU - Barea, Jaime J.

AU - van Meel, Eline

AU - Kornfeld, Stuart

AU - Bird, Lynne M.

PY - 2015/11

Y1 - 2015/11

UR - http://www.scopus.com/inward/record.url?scp=84944789862&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37213

DO - 10.1002/ajmg.a.37213

M3 - Letter

C2 - 26108976

AN - SCOPUS:84944789862

SN - 1552-4825

VL - 167

SP - 2844

EP - 2846

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -