A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

L A M Demain, D Antunes, J O'Sullivan, S S Bhaskhar, R T O'Keefe, W G Newman

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@article{6224dcb567124a84be91d0355385f6b2,

title = "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects",

keywords = "Letter",

author = "Demain, {L A M} and D Antunes and J O'Sullivan and Bhaskhar, {S S} and O'Keefe, {R T} and Newman, {W G}",

year = "2018",

month = apr,

day = "19",

doi = "10.1111/cge.13255",

language = "English",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "John Wiley & Sons Ltd",

}

TY - JOUR

T1 - A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

AU - Demain, L A M

AU - Antunes, D

AU - O'Sullivan, J

AU - Bhaskhar, S S

AU - O'Keefe, R T

AU - Newman, W G

PY - 2018/4/19

Y1 - 2018/4/19

KW - Letter

U2 - 10.1111/cge.13255

DO - 10.1111/cge.13255

M3 - Article

C2 - 29671881

SN - 0009-9163

JO - Clinical Genetics

JF - Clinical Genetics

ER -