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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map toExpand
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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in twoExpand
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Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversusExpand
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X-linked situs abnormalities result from mutations in ZIC3
Vertebrates position unpaired organs of the chest and abdomen asymmetrically along the left–right (LR) body axis. Each structure comes to lie non-randomly with respect to the midline in an overallExpand
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Foxl2 is required for commitment to ovary differentiation.
Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead transcription factor Foxl2 form meioticExpand
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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
Linkage disequilibrium (LD), or the non-random association of alleles, is poorly understood in the human genome. Population genetic theory suggests that LD is determined by the age of the markers,Expand
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Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996].Expand
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X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.
A YAC/STS map of the X chromosome has reached an inter-STS resolution of 75 kb. The map density is sufficient to provide YACs or other large-insert clones that are cross-validated as sequencingExpand
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Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling.
The type 1 Simpson-Golabi-Behmel overgrowth syndrome (SGBS1) is caused by loss-of-function mutations of the X-linked GPC3 gene encoding glypican-3, a cell-surface heparan sulfate proteoglycan thatExpand
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Gpc3 expression correlates with the phenotype of the Simpson‐Golabi‐Behmel syndrome
Interest in glypican‐3 (GPC3), a member of the glypican‐related integral membrane heparan sulfate proteoglycans (GRIPS) family, has increased with the finding that it is mutated in theExpand
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