TY - JOUR
T1 - Smith-Fineman-Myers syndrome
T2 - Report on a large family
AU - Wei, J.
AU - Chen, B.
AU - Jiang, Y.
AU - Yang, Y.
AU - Guo, Y.
PY - 1993/1/1
Y1 - 1993/1/1
N2 - Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.
AB - Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.
KW - X-linked mental retardation
KW - maternal kindred
KW - primary intellectual impairment
UR - http://www.scopus.com/inward/record.url?scp=0027272302&partnerID=8YFLogxK
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U2 - 10.1002/ajmg.1320470302
DO - 10.1002/ajmg.1320470302
M3 - Article
C2 - 8135271
AN - SCOPUS:0027272302
VL - 47
SP - 307
EP - 311
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -