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It is likely that the der X chromosome was formed by a de novo aberrant Xp-Xq interchange during paternal meiosis. In all cases, the deletions cosegregated with the phenotype. FISH-deletion mapping defines a kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide. Homeobox genes and pattern formation in the vertebrate limb.

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Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

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Patients with SHOX haploinsufficiency usually present with mesomelic short stature. The SHOX mutation database is useful to assess the pathogenicity of missense mutations. The father had mild Leri-Weill dyschondrosteosis. In a man with Langer mesomelic dysplasiaZinn et al. Likewise, the breakpoints of one duplication have been characterized, showing that this CNV was a tandem duplication mediated by Alu repeats [ Fukami et al.

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