SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Nature Genetics

Volumn 48, Issue 7, 2016, Pages 792-797

  Narumi, Satoshi ^a,b   Amano, Naoko ^a   Ishii, Tomohiro ^a   Katsumata, Noriyuki ^b   Muroya, Koji ^c   Adachi, Masanori ^c   Toyoshima, Katsuaki ^c   Tanaka, Yukichi ^c   Fukuzawa, Ryuji ^d   Miyako, Kenichi ^e   Kinjo, Saori ^f   Ohga, Shouichi ^g   Ihara, Kenji ^g   Inoue, Hirosuke ^g   Kinjo, Tadamune ^g   Hara, Toshiro ^g   Kohno, Miyuki ^h   Yamada, Shiro ^h   Urano, Hironaka ⁱ   Kitagawa, Yosuke ^j   Tsugawa, Koji ^k   Higa, Asumi ^l   Miyawaki, Masakazu ^l   Okutani, Takahiro ^l   Kizaki, Zenro ^m   Hamada, Hiroyuki ^m   Kihara, Minako ^m   Shiga, Kentaro ⁿ   Yamaguchi, Tetsuya ^o   Kenmochi, Manabu ^p   Kitajima, Hiroyuki ^b   Fukami, Maki ^q   Shimizu, Atsushi ^a   Kudoh, Jun ^a   Shibata, Shinsuke ^a   Okano, Hideyuki ^r   Miyake, Noriko ^r   Matsumoto, Naomichi ^a   Hasegawa, Tomonobu ^a   more..

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

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

^e FUKUOKA CHILDREN S HOSPITAL   (Japan)

^f Okinawa Prefectural Chubu Hospital   (Japan)

^g KYUSHU UNIVERSITY   (Japan)

^h GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁱ Gumna Children S Medical Center   (Japan)

^j HIROSAKI UNIVERSITY   (Japan)

^k Ohdate Municipal Hospital   (Japan)

^l WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^m KYOTO FIRST RED CROSS HOSPITAL   (Japan)

ⁿ YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^o KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

^q IWATE MEDICAL UNIVERSITY   (Japan)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL INSUFFICIENCY; ANEMIA; ARTICLE; BIRTH WEIGHT; CELL MEMBRANE; CHROMOSOME 7; CHROMOSOME LOSS; CHRONIC DIARRHEA; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOSOME; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENETIC DISORDER; GENITAL SYSTEM DISEASE; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MIRAGE SYNDROME; MYELODYSPLASTIC SYNDROME; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT INFECTION; SAMD9 GENE; THROMBOCYTOPENIA; WILD TYPE; ADOLESCENT; CHILD; GENETICS; GENOTYPE; GROWTH DISORDER; INFANT; METABOLISM; MIDDLE AGED; MUTATION; NEWBORN; PATHOLOGY; PEDIGREE; PHENOTYPE;

EGFR PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR RECEPTOR; PROTEIN; SAMD9 PROTEIN, HUMAN;

ADOLESCENT; ADRENAL INSUFFICIENCY; CHILD; CHROMOSOMES, HUMAN, PAIR 7; ENDOSOMES; FEMALE; GENOTYPE; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; PEDIGREE; PHENOTYPE; PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 84968538014     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3569     Document Type: Article

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