Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Journal of Medical Genetics

Volumn 42, Issue 7, 2005, Pages 551-557

  Ferguson, P J ^b   Chen, S ^b   Tayeh, M K ^b   Ochoa, L ^b   Leal, S M ^c   Pelet, A ^d   Munnich, A ^d   Lyonnet, S ^d   Majeed, H A ^e   El Shanti, Hatem ^a,b  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF JORDAN   (Jordan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 18P; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFLAMMATION; LPIN2 GENE; OSTEOMYELITIS; PHENOTYPE; PRIORITY JOURNAL; SKIN INFLAMMATION;

ADULT; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANIMALS; CAUSALITY; CHRONIC DISEASE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HOMOZYGOTE; HUMANS; JORDAN; LINKAGE (GENETICS); MALE; MUTATION; NUCLEAR PROTEINS; ORGAN SPECIFICITY; OSTEOMYELITIS; PEDIGREE; PHENOTYPE; RECURRENCE; SWEET'S SYNDROME; SYNDROME;

EID: 22244469461     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.030759     Document Type: Article

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