Expanding the clinical spectrum of SLC29A3 gene defects

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 309-313

  Spiegel, Ronen ^a,b   Cliffe, Simon T ^c   Buckley, Michael F ^c,d   Crow, Yanick J ^e   Urquhart, Jill ^e   Horovitz, Yoseph ^a,b   Tenenbaum Rakover, Yardena ^a,b   Newman, William G ^e   Donnai, Dian ^e   Shalev, Stavit A ^a,b  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c PRINCE OF WALES HOSPITAL   (Australia)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Autosomal recessive; Diabetes mellitus; Hyperpigmentation; Hypertrichosis; SLC29A3 gene

Indexed keywords

INSULIN ANTIBODY;

ADULT; ANTIBODY BLOOD LEVEL; ARTHRALGIA; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ECHOGRAPHY; EDEMA; EXOPHTHALMOS; FACE DYSMORPHIA; FAMILIAL DISEASE; FAMILY; FEMALE; FINGER MALFORMATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GINGIVA HYPERTROPHY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERPIGMENTATION; HYPERTELORISM; HYPERTRICHOSIS; HYPOGONADOTROPIC HYPOGONADISM; INSULIN TREATMENT; IRON DEFICIENCY ANEMIA; JAW MALFORMATION; LIVER BIOPSY; MALE; MICROVESICULAR STEATOSIS; MORNING STIFFNESS; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PANNICULITIS; PERCEPTION DEAFNESS; PERICARDIAL EFFUSION; PHENOTYPE; PIGMENTED HYPERTRICHOSIS WITH INSULIN DEPENDENT DIABETES; POLYARTHRITIS; PRESCHOOL CHILD; RELATIVE; SEQUENCE ANALYSIS; SICKLE CELL TRAIT; SLC29A3 GENE; SPEECH DISORDER; STEATOSIS; WALKING DIFFICULTY;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; DIABETES MELLITUS; FEMALE; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; HYPERPIGMENTATION; HYPERTRICHOSIS; MALE; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; PEDIGREE; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 77956897104     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.012     Document Type: Article

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