Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2420-2430

  Gripp, Karen W ^a   Zand, Dina J ^b   Demmer, Laurie ^c   Anderson, Carol E ^d   Dobyns, William B ^e   Zackai, Elaine H ^f   Denenberg, Elizabeth ^a   Jenny, Kim ^a   Stabley, Deborah L ^a   Sol Church, Katia ^a  

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

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c Levine Children's Hospital   (United States)

^d ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Chiari 1 malformation; Heterotopia; Malignancy; Myelofibrosis; Noonan syndrome with loose anagen hair; Rasopathy; SHOC2

Indexed keywords

DNA;

ADULT; AGGRESSION; ALEXANDER DISEASE; ARTICLE; ASTIGMATISM; BIRTH WEIGHT; BONE MARROW BIOPSY; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; DRY SKIN; EAR INFECTION; EAR MALFORMATION; ECTOPIC TISSUE; ECZEMA; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; GENE MUTATION; GILLES DE LA TOURETTE SYNDROME; HEADACHE; HEART ATRIUM SEPTUM DEFECT; HEART FORAMEN OVALE; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYDROCEPHALUS; HYPERPIGMENTATION; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XY; LOOSE ANAGEN HAIR SYNDROME; MACROCEPHALY; MACROSOMIA; MALE; MITRAL VALVE REGURGITATION; MUSCLE HYPOTONIA; MUTATOR GENE; MYELOFIBROSIS; NECK MALFORMATION; NOONAN SYNDROME; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; PYLORUS STENOSIS; RECTUM PROLAPSE; SHOC2 GENE; SKIN HEMANGIOMA; SPECTACLES; SPLENECTOMY; STOMACH TUBE; STRABISMUS; SUBDURAL HEMATOMA; SURGICAL DRAINAGE; VARICOSIS; WALKING DIFFICULTY; WRINKLE;

CHIARI 1 MALFORMATION; HETEROTOPIA; MALIGNANCY; MYELOFIBROSIS; NOONAN SYNDROME WITH LOOSE ANAGEN HAIR; RASOPATHY; SHOC2;

ABNORMALITIES, MULTIPLE; ADULT; BRAIN; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HAIR; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NOONAN SYNDROME; PHENOTYPE; PRIMARY MYELOFIBROSIS; YOUNG ADULT;

EID: 84884984814     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36098     Document Type: Article

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