A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

American Journal of Medical Genetics, Part A

Volumn 164, Issue 4, 2014, Pages 998-1002

  Fujita, Atsushi ^a   Ochi, Nobuhiko ^b   Fujimaki, Hidehiko ^c   Muramatsu, Hideki ^d   Takahashi, Yoshiyuki ^d   Natsume, Jun ^d   Kojima, Seiji ^d   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   Miyake, Noriko ^a  

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

^b Daini Aoitori Gakuen Aichi Pref H   (Japan)

^c NAGOYA UNIVERSITY HOSPITAL   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Hepatoblastoma; Macrocephaly; Osteopathia striata with cranial sclerosis; WTX mutation

Indexed keywords

CYSTEINE; GLUTAMIC ACID; THREONINE; AMER1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CANCER STAGING; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXOME; FACIES; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; HEPATOBLASTOMA; HUMAN; HYDRAMNIOS; MACROCEPHALY; NONSENSE MUTATION; OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSTEOSCLEROSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKULL RADIOGRAPHY; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; GENETIC PREDISPOSITION; GENETICS; LIVER TUMOR; MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEPATOBLASTOMA; HUMANS; LIVER NEOPLASMS; MUTATION; OSTEOSCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84896315641     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36369     Document Type: Article

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