Germline de Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

American Journal of Human Genetics

Volumn 98, Issue 5, 2016, Pages 1001-1010

  Petrovski, Slavé ^a,b   Küry, Sébastien ^c   Myers, Candace T ^d   Anyane Yeboa, Kwame ^e   Cogné, Benjamin ^c   Bialer, Martin ^f   Xia, Fan ^g   Hemati, Parisa ^a   Riviello, James ^a   Mehaffey, Michele ^d   Besnard, Thomas ^c   Becraft, Emily ^h   Wadley, Alexandrea ⁱ   Politi, Anya Revah ^a   Colombo, Sophie ^a   Zhu, Xiaolin ^a   Ren, Zhong ^a   Andrews, Ian ^j   Dudding Byth, Tracy ^k,l   Schneider, Amy L ^b   Wallace, Geoffrey ^m   Rosen, Aaron B I ^d   Schelley, Susan ^h   Enns, Gregory M ^h   Corre, Pierre ^c   Dalton, Joline ⁿ   Mercier, Sandra ^c   Latypova, Xénia ^c   Schmitt, Sébastien ^c   Guzman, Edwin ^a   Moore, Christine ^f   Bier, Louise ^a   Heinzen, Erin L ^a   Karachunski, Peter ⁿ   Shur, Natasha ^o   Grebe, Theresa ^p   Basinger, Alice ^q   Nguyen, Joanne M ^r   Bézieau, Stéphane ^c   Wierenga, Klaas ⁱ   Bernstein, Jonathan A ^h   Scheffer, Ingrid E ^b   Rosenfeld, Jill A ^g   Mefford, Heather C ^d   Isidor, Bertrand ^c   Goldstein, David B ^a   more..

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e NewYork Presbyterian Hospital   (United States)

^f Northwell Health ^*  (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^j UNIVERSITY OF NEW SOUTH WALES   (Australia)

^k Hunter Health   (Australia)

^l UNIVERSITY OF NEWCASTLE   (Australia)

^m UNIVERSITY OF QUEENSLAND   (Australia)

ⁿ UNIVERSITY OF MINNESOTA   (United States)

^o ALBANY MEDICAL CENTER   (United States)

^p UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^q Department of Metabolic Genetics   (United States)

^r UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN BETA 1 SUBUNIT; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; UNCLASSIFIED DRUG; GNB1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BINDING SITE; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EXOME; EXON; FEMALE; GENE SEQUENCE; HUMAN; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PURIFYING SELECTION; SCHOOL CHILD; SEIZURE; SOMATIC MUTATION; YOUNG ADULT; CHEMISTRY; DEVELOPMENTAL DISABILITIES; GENETICS; GERMLINE MUTATION; INFANT; INTELLECTUAL DISABILITY; PATHOLOGY; PHENOTYPE; PROTEIN CONFORMATION; SEIZURES; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GERM-LINE MUTATION; GTP-BINDING PROTEIN BETA SUBUNITS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PROTEIN CONFORMATION; SEIZURES; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84963945106     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.011     Document Type: Article

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