Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1144-1149

  Haack, Tobias B ^a,b   Hogarth, Penelope ^c,d   Kruer, Michael C ^e   Gregory, Allison ^d   Wieland, Thomas ^b   Schwarzmayr, Thomas ^b   Graf, Elisabeth ^b   Sanford, Lynn ^d   Meyer, Esther ^f,g   Kara, Eleanna ^h,i   Cuno, Stephan M ^a,b   Harik, Sami I ^j   Dandu, Vasuki H ^j   Nardocci, Nardo ^k   Zorzi, Giovanna ^k   Dunaway, Todd ^l   Tarnopolsky, Mark ^m   Skinner, Steven ⁿ   Frucht, Steven ^o   Hanspal, Era ^p,q   Schrander Stumpel, Connie ^r   Héron, Delphine ^s   Mignot, Cyril ^s   Garavaglia, Barbara ^k   Bhatia, Kailash ^h   Hardy, John ^h,i   Strom, Tim M ^a,b   Boddaert, Nathalie ^t   Houlden, Henry H ^h   Kurian, Manju A ^f,g   Meitinger, Thomas ^a,b   Prokisch, Holger ^a,b   Hayflick, Susan J ^c,d,u   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Sanford Children's Health Research Center   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^k DEPARTMENT OF NEUROSURGERY   (Italy)

^l Mount Sinai School of Medicine ^*

^m MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

ⁿ GREENWOOD GENETIC CENTER   (United States)

^o MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^p ALBANY MEDICAL CENTER   (United States)

^q ALBANY MEDICAL COLLEGE   (United States)

^r MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^s PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^t HÔPITAL NECKER ENFANTS MALADES   (France)

^u OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IRON;

ARTICLE; AUTOPHAGY; BASAL GANGLION; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; DEMENTIA; DETERIORATION; DEVELOPMENTAL DISORDER; DYSTONIA; EXOME; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GERM LINE; GLOBUS PALLIDUS; HUMAN; MALE; MOSAICISM; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION; SUBSTANTIA NIGRA; WDR45 GENE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; CARRIER PROTEINS; EXOME; FEMALE; GENE ORDER; GENES, X-LINKED; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IRON OVERLOAD; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE;

EID: 84870913730     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.019     Document Type: Article

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