Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 146-153

  Sun, Yu ^a   Almomani, Rowida ^a   Aten, Emmelien ^a   Celli, Jacopo ^a   Van Der Heijden, Jaap ^a   Venselaar, Hanka ^b   Robertson, Stephen P ^c   Baroncini, Anna ^d   Franco, Brunella ^e,f   Basel Vanagaite, Lina ^g   Horii, Emiko ^h,i   Drut, Ricardo ^j   Ariyurek, Yavuz ^a   Den Dunnen, Johan T ^a   Breuning, Martijn H ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d Unit of Medical Genetics   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^g TEL AVIV UNIVERSITY   (Israel)

^h JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

ⁱ Yokkaichi Municipal Hospital   (Japan)

^j Hospital de Ninos Sor Maria Ludovica   (Argentina)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RNA; ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; FILAMINS;

ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; FEMALE; FLNA GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION; BONE TUMOR; FIBROMA; GENETIC ASSOCIATION; GENETICS; MALE; MUTATION; NEWBORN; PIGMENT DISORDER; PRESCHOOL CHILD; SKIN PIGMENTATION; TUMOR RECURRENCE; X CHROMOSOME LINKED DISORDER;

ADULT; BONE DISEASES, DEVELOPMENTAL; BONE NEOPLASMS; CHILD, PRESCHOOL; CONTRACTILE PROTEINS; FEMALE; FIBROMA; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROFILAMENT PROTEINS; MUTATION; NEOPLASM RECURRENCE, LOCAL; PEDIGREE; PIGMENTATION DISORDERS; SKIN PIGMENTATION;

EID: 77955076128     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.008     Document Type: Article

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