Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation

Pediatric Dermatology

Volumn 30, Issue 5, 2013, Pages

  Mutlu, Gül Yesiltepe ^a   Ramot, Yuval ^b   Babaoglu, Kadir ^a   Altun, Gurkan ^a   Zlotogorski, Abraham ^b   Molho Pessach, Vered ^b  

^a KOCAELI UNIVERSITY   (Turkey)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAVA VEIN DISEASE; CHILD; ECHOCARDIOGRAPHY; FEMALE; GENE; GENETIC ANALYSIS; GENODERMATOSIS; HUMAN; HUMAN TISSUE; INFERIOR CAVA VEIN AGENESIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SLC29A3 GENE; SYNDROME H;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; CHILD; CODON, NONSENSE; DATABASES, GENETIC; FAMILY HEALTH; FEMALE; HUMANS; HYPERPIGMENTATION; HYPERTRICHOSIS; MOLECULAR SEQUENCE DATA; NUCLEOSIDE TRANSPORT PROTEINS; SKIN DISEASES, GENETIC; SYNDROME; VENA CAVA, INFERIOR;

EID: 84883849885     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12085     Document Type: Article

References (15)

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