Chromosomal localisation of a pseudoautosomal growth gene(s).
Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion...
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| Hauptverfasser: | , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
September 01, 1992
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| In: |
Journal of medical genetics
Year: 1992, Jahrgang: 29, Heft: 9, Pages: 624-628 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.29.9.624 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmg.29.9.624 Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/29/9/624 
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| Verfasserangaben: | Tsutomu Ogata, Christine Petit, Gudrun Rappold, Nobutake Matsuo, Takahiko Matsumoto, Peter Goodfellow |
| Zusammenfassung: | Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s). |
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| Beschreibung: | Gesehen am 31.03.2021 |
| Beschreibung: | Online Resource |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.29.9.624 |