PMID: 469892Feb 1, 1979Paper

The 9p-syndrome

Journal of Medical Genetics
S J FunderburkI Klisak

Abstract

A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·T MohandasJ D Shulkin
Feb 1, 1977·Journal of Medical Genetics·S H RobertsM E Heathcote
Aug 31, 1977·Human Genetics·Y KurokiI Matsui
Oct 1, 1976·Journal of Medical Genetics·A Daniel, P R Lam-Po-Tang
Feb 9, 1974·Lancet·M B Jenkins, W J O'Rourke
Aug 17, 1974·Lancet·A Forabosco, B Dallapiccola
Jan 1, 1971·Humangenetik·I SubrtO Táborský
Mar 1, 1966·Clinica Chimica Acta; International Journal of Clinical Chemistry·E Beutler, M C Baluda

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Citations

Jan 1, 1980·Human Genetics·M T Mulcahy, R G Wilson
Jan 1, 1985·Pediatric Neurology·E Chaves-CarballoA Shoaibi
Nov 1, 1988·Journal of Medical Genetics·J L HuretJ Lejeune
Jul 5, 2013·American Journal of Medical Genetics. Part a·Shane C QuinonezCatherine E Keegan
Feb 24, 2001·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·C B HermeschJ D Cody
Dec 1, 1988·American Journal of Medical Genetics·S M TayelM M McCorquodale
Mar 1, 1990·American Journal of Medical Genetics·K GameD K Kalousek
Apr 1, 1989·American Journal of Medical Genetics·B K BurtonE S Roach

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