Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma

Journal of Dermatology

Volumn 41, Issue 4, 2014, Pages 319-321

  Huh, Ji Young ^a   Kwon, Min Jung ^b   Seo, Kyu Young ^a   Kim, Moon Kyu ^a   Chae, Kyu Young ^a   Kim, Se Hoon ^c   Ki, Chang Seok ^b   Yoon, Moon Soo ^a   Kim, Dong Hyun ^a  

^a CHA University   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

Author keywords

genetic skin diseases; GNAS; heterotopic ossification; medulloblastoma; osteoma cutis

Indexed keywords

ABDOMINAL DISEASE; ABDOMINAL HARD PLAQUE; ARTICLE; BRAIN TUMOR; CARDIOPULMONARY ARREST; CASE REPORT; CHILD; CLINICAL FEATURE; DNA EXTRACTION; EXCISION; EXON; FAMILY HISTORY; FAMILY STUDY; GAIT DISORDER; GAIT DISTURBANCE; GENE FREQUENCY; GENE INACTIVATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HETEROTOPIC OSSIFICATION; HISTOPATHOLOGY; HORMONE RESISTANCE; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; INFORMED CONSENT; KOREA; MALE; MEDULLOBLASTOMA; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OBESITY; OSTEOMA; PLATE LIKE OSTEOMA CUTIS; PREMATURITY; PRESCHOOL CHILD; SKIN CALCIFICATION; SKIN DEFECT; SKIN DISEASE; WILD TYPE; CEREBELLUM TUMOR; FATALITY; GENETICS; HOMOZYGOTE; INFANT; METABOLIC BONE DISEASE; MULTIPLE CANCER; PATHOLOGY; STOP CODON;

DNA; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; STOP CODON;

BASE SEQUENCE; BONE DISEASES, METABOLIC; CEREBELLAR NEOPLASMS; CODON, NONSENSE; DNA, NEOPLASM; FATAL OUTCOME; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HOMOZYGOTE; HUMANS; INFANT; MALE; MEDULLOBLASTOMA; NEOPLASMS, MULTIPLE PRIMARY; OSSIFICATION, HETEROTOPIC; SKIN DISEASES, GENETIC;

EID: 84897479933     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12284     Document Type: Article

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