Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1217-1224

  Ekvall, Sara ^a   Hagenäs, Lars ^b   Allanson, Judith ^c   Annerén, Göran ^a   Bondeson, Marie Louise ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Mutation; Noonan syndrome; PTPN11; RAS MAPK pathway; SHOC2

Indexed keywords

PAMIDRONIC ACID;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARACHNOID CYST; ARTICLE; BLEEDING TENDENCY; BRAF GENE; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CONTROLLED STUDY; CRYPTORCHISM; DELAYED PUBERTY; DIVERGENT STRABISMUS; DNA SEQUENCE; DOWNWARD PALPEBRAL SLANT; EPIDURAL HEMATOMA; EXOPHTHALMOS; EXTRAMEDULLARY HEMATOPOIESIS; FEEDING DISORDER; FEMALE; FUNNEL CHEST; GASTROESOPHAGEAL REFLUX; GASTROTOMY; GENE; GENE MUTATION; GINGIVA HYPERPLASIA; HEAD INJURY; HEART HYPERTROPHY; HEART MURMUR; HOARSENESS; HUMAN; HYGROMA; HYPERMETROPIA; HYPERTELORISM; INFANT; INTRATHORACIC EXTRAMEDULLARY HEMATOPOIESIS; KERATOSIS; KERATOSIS PILARIS; KRAS GENE; LIVER HEMANGIOMA; LOOSE ANAGEN HAIR SYNDROME; MACROCEPHALY; MALE; MEK1 GENE; MEK2 GENE; MUTATIONAL ANALYSIS; MYOPIA; NEUROBLASTOMA; NEWBORN; NOONAN SYNDROME; NRAS GENE; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PATHOLOGIC FRACTURE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PTOSIS; PTPN11 GENE; RAF1 GENE; SCHOOL CHILD; SHOC2 GENE; SHORT STATURE; SOS1 GENE; SPINAL CORD COMPRESSION; SPINAL CORD TUMOR; SPINAL NEUROBLASTOMA; VOMITING; WEBBED NECK;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 79956222229     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33987     Document Type: Article

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