Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 231-236

  Hiraki, Yoko ^a   Miyatake, Satoko ^b   Hayashidani, Michiko ^c   Nishimura, Yutaka ^c   Matsuura, Hiroo ^c   Kamada, Masahiro ^c   Kawagoe, Takuji ^c   Yunoki, Keiji ^c   Okamoto, Nobuhiko ^d   Yofune, Hiroko ^e   Nakashima, Mitsuko ^b   Tsurusaki, Yoshinori ^b   Satisu, Hirotomo ^b   Murakami, Akira ^b   Miyake, Noriko ^b   Nishimura, Gen ^f   Matsumoto, Naomichi ^b  

^a Hiroshima Municipal Center for Child Health and Development   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c HIROSHIMA CITY HOSPITAL   (Japan)

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

^e Hiroshima City Child Guidance Center   (Japan)

^f TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

ABCC9; Aortic aneurysm; Cantu syndrome; Craniosynostosis; Familial mutation

Indexed keywords

ABCC9 GENE; ADULT; AORTA ANEURYSM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANTU SYNDROME; CARDIOMEGALY; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; FACIES; FAMILY ASSESSMENT; FATHER; GENE; HUMAN; HUMAN TISSUE; JAPANESE; MACROSOMIA; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKULL RADIOGRAPHY; THORACIC AORTA ANEURYSM; THORACIC AORTA SURGERY; THORAX RADIOGRAPHY; YOUNG ADULT; AMINO ACID SEQUENCE; AORTIC ANEURYSM; BRAIN; CHEMISTRY; CRANIOSYNOSTOSES; GENETIC DISEASES, X-LINKED; GENETICS; HYPERTRICHOSIS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; PHENOTYPE; RADIOGRAPHY; SYNDROME;

ABCC9 PROTEIN, HUMAN; SULFONYLUREA RECEPTOR;

ADULT; AMINO ACID SEQUENCE; AORTIC ANEURYSM; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; BRAIN; CARDIOMEGALY; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FACIES; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTRICHOSIS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SULFONYLUREA RECEPTORS; SYNDROME;

EID: 84890693713     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36228     Document Type: Article

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