A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

American Journal of Medical Genetics, Part A

Volumn 170, Issue 9, 2016, Pages 2237-2247

  Gripp, Karen W ^a   Aldinger, Kimberly A ^b   Bennett, James T ^b,c   Baker, Laura ^a   Tusi, Jessica ^a   Powell Hamilton, Nina ^a   Stabley, Deborah ^a   Sol Church, Katia ^a   Timms, Andrew E ^b   Dobyns, William B ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

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

Author keywords

Dandy Walker malformation; developmental delay; loose anagen hair; Noonan syndrome; PPP1CB; rasopathy; short stature

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; PHOSPHOPROTEIN PHOSPHATASE 1; PPP1CB PROTEIN, HUMAN;

ADULT; ARACHNOID CYST; ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN HERNIA; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CONTROLLED STUDY; CRYPTORCHISM; CYTOREDUCTIVE SURGERY; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ECTOPIC TISSUE; EXOME; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FUNNEL CHEST; GASTROESOPHAGEAL REFLUX; GENE; HAIR GROWTH; HAIR TEXTURE; HEMANGIOMA; HUMAN; HYPERTELORISM; HYPOPLASIA; INFANT; LARYNGOMALACIA; LOOSE ANAGEN HAIR SYNDROME; LOW SET EAR; MACROCEPHALY; MALE; MISSENSE MUTATION; NEUROIMAGING; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PPP1CB GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCANTY HAIR; SCHOOL CHILD; SHORT STATURE; SOCIAL INTERACTION; TREMOR; WEIGHT GAIN; YOUNG ADULT; BRAIN; DANDY-WALKER SYNDROME; DIAGNOSTIC IMAGING; FACIES; GENETIC ASSOCIATION STUDY; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; PATHOLOGY;

BRAIN; CHILD; CHILD, PRESCHOOL; DANDY-WALKER SYNDROME; DIAGNOSTIC IMAGING; EXOME; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LOOSE ANAGEN HAIR SYNDROME; MALE; MUTATION, MISSENSE; NOONAN SYNDROME; PHENOTYPE; PROTEIN PHOSPHATASE 1; RAS PROTEINS; YOUNG ADULT;

EID: 84973460261     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37781     Document Type: Article

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