Homing in on Russell-Silver

Trends in Molecular Medicine

Volumn 7, Issue 3, 2001, Pages 100-

  Aldred, Micheala ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 15; CHROMOSOME 7; CHROMOSOME ARM; CLINICAL FEATURE; FACE MALFORMATION; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; NOTE; PHENOTYPE; POINT MUTATION; PRADER WILLI SYNDROME; RECESSIVE INHERITANCE; SILVER RUSSELL SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 0035095661     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1471-4914(01)01923-2     Document Type: Note

References (3)

1. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
2. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
3. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Russell-Silver syndrome delimits a candidate gene region