Mutation of HOXA13 in hand-foot-genital syndrome

@article{Mortlock1997MutationOH,
  title={Mutation of HOXA13 in hand-foot-genital syndrome},
  author={Douglas P. Mortlock and Jeffrey W. Innis},
  journal={Nature Genetics},
  year={1997},
  volume={15},
  pages={179-180}
}
There are several human syndromes which involve defects of the limbs and the Müllerian ducts or its derivatives1–3. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Stern et al.4 Additional reports describing other affected families have also been published1,5–11. Limb anomalies include short first metacarpals of normal thickness, small distal phalanges of the thumbs, short middle phalanges of the fifth fingers, and fusion… 
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
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A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
TLDR
DNA was isolated from 36 members of a single upstate (northern) New York white family of Italian descent in which both CVT and CMT were segregating and a single missense mutation, M319K (956T-->A), in the HOXD10 gene was detected.
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References

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TLDR
The findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with hand-foot-genital syndrome.
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TLDR
A community of six syndromes, four of them apparently rare, is proposed; all share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community.
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TLDR
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TLDR
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TLDR
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Four individuals from three generations of a family had the Hand-Foot-Genital (Hand-Foot-Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the
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