Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 156-163

  Miura, Kohji ^a   Kim, Ok Hwa ^b   Lee, Hey Ran ^c   Namba, Noriyuki ^a   Michigami, Toshimi ^d   Yoo, Won Joon ^c   Choi, In Ho ^c   Ozono, Keiichi ^a   Cho, Tae Joon ^c  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Ajou University Medical CentSuwon   (South Korea)

^c Seoul National University Children's Hospital   (South Korea)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

CNP signal; Macrodactyly of the big toe; Scoliosis; Slipped capital femoral epiphysis; Tall stature

Indexed keywords

NATRIURETIC PEPTIDE TYPE C; ATRIAL NATRIURETIC FACTOR RECEPTOR; NATRIURETIC PEPTIDE RECEPTOR B;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; COXA VALGA; FEMUR EPIPHYSIS; GAIN OF FUNCTION MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC TRANSFECTION; HUMAN; IN VITRO STUDY; JAPANESE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NPR2 GENE; OVERGROWTH SYNDROME; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SCOLIOSIS; TOE MALFORMATION; AMINO ACID SEQUENCE; BONE; CASE REPORT; CONGENITAL MALFORMATION; FINGER; GENETICS; GROWTH DISORDERS; LIMB MALFORMATION; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RADIOGRAPHY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BONE AND BONES; CHILD; DNA MUTATIONAL ANALYSIS; FINGERS; GENETIC ASSOCIATION STUDIES; GROWTH DISORDERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, ATRIAL NATRIURETIC FACTOR;

EID: 84890676798     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36218     Document Type: Article

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