Goltz syndrome and PORCN: A view from Europe

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Rudolf Happle

Abstract

Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant, multisystem birth defect with lethality for male embryos. The hypoplastic skin lesions follow Blaschko's lines and often show herniation of subcutaneous fatty tissue. Extracutaneous defects mainly involve the brain, the bones, the teeth, and the eyes. All of these anomalies show a segmental arrangement reflecting functional X-chromosome mosaicism. The present contribution tells the story how the molecular cause of Goltz syndrome was investigated and found by the group of the geneticist Karl-Heinz Grzeschik from Marburg, Germany.

References

Feb 1, 1977·The British Journal of Dermatology·R Happle, W Lenz
Jan 15, 1994·American Journal of Medical Genetics·E A LindsayH Y Zoghbi
Jun 5, 2007·Nature Genetics·Xiaoling WangIgnatia B Van den Veyver
Jun 5, 2007·Nature Genetics·Karl-Heinz GrzeschikRudolf Happle
Mar 25, 2009·Human Mutation·Dorothea BornholdtKarl-Heinz Grzeschik
Jul 10, 2009·Journal of Medical Genetics·S M MaasRaoul C M Hennekam
Dec 8, 2010·Pediatric Dermatology·Hiroshi YoshihashiKenjiro Kosaki
May 11, 2011·Developmental Biology·Steffen BiecheleJanet Rossant
Jul 20, 2011·Proceedings of the National Academy of Sciences of the United States of America·Jared J BarrottL Charles Murtaugh
Nov 8, 2012·Pediatric Dermatology·Said AlkindiDiana Purvis
Aug 15, 2013·Prenatal Diagnosis·Elizabeth A SellarsRobert J Hopkin
Dec 21, 2013·American Journal of Medical Genetics. Part a·Silvina N Contreras-CapetilloRaoul C Hennekam
May 7, 2014·The Journal of Biological Chemistry·Jessica Rios-EstevesMarilyn D Resh
Jul 17, 2014·European Journal of Human Genetics : EJHG·Paul D BradyJoris R Vermeesch
Dec 3, 2014·The American Journal of Pathology·Elizabeth J BankheadSabine Fuhrmann
Mar 3, 2015·Developmental Biology·John SnowballDebora Sinner

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Citations

Dec 6, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felipe S BarrosBruno P Soares
Oct 29, 2020·American Journal of Medical Genetics. Part a·Anna WawrockaMaciej R Krawczynski
Jun 6, 2018·Case Reports in Dermatology·Sahar AlsharifFay Khoja

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