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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 1999
B C Hamel, and
A P Smits, and
B van den Helm, and
D F Smeets, and
N V Knoers, and
T van Roosmalen, and
G H Thoonen, and
C F Assman-Hulsmans, and
H H Ropers, and
E C Mariman, and
H Kremer
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands. b.hamel@antrg.azn.nl
Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.
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A P Smits, and
B van den Helm, and
D F Smeets, and
N V Knoers, and
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G H Thoonen, and
C F Assman-Hulsmans, and
H H Ropers, and
E C Mariman, and
H Kremer
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T van Roosmalen, and
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C F Assman-Hulsmans, and
H H Ropers, and
E C Mariman, and
H Kremer
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A P Smits, and
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N V Knoers, and
T van Roosmalen, and
G H Thoonen, and
C F Assman-Hulsmans, and
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E C Mariman, and
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B C Hamel, and
A P Smits, and
B van den Helm, and
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N V Knoers, and
T van Roosmalen, and
G H Thoonen, and
C F Assman-Hulsmans, and
H H Ropers, and
E C Mariman, and
H Kremer
January 1980,
American journal of medical genetics,
B C Hamel, and
A P Smits, and
B van den Helm, and
D F Smeets, and
N V Knoers, and
T van Roosmalen, and
G H Thoonen, and
C F Assman-Hulsmans, and
H H Ropers, and
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H Kremer
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