Unexpected molecular findings in 2 previously described brothers with Smith Lemli-Opitz syndrome [1]

Genetic Counseling

Volumn 10, Issue 4, 1999, Pages 403-

  De Die Smulders, C E M ^a   Waterham, H R ^a   Fryns, J P ^a  

^a Department or Clinical Genetics ^*  (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE;

ADULT; CASE REPORT; FACE DYSMORPHIA; GENE MUTATION; HETEROZYGOTE; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; MOLECULAR BIOLOGY; QUADRIPLEGIA; SHORT STATURE; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY;

ADULT; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0033432789     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)