Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia-Reference-Cited by-同舟云学术

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

Published:2018-09-30 Issue:3 Volume:180 Page:657-661
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Heinz L.¹²^ORCID,Bourrat E.³,Vabres P.⁴,Thevenon J.⁵⁶,Hotz A.¹^ORCID,Hörer S.¹²,Küsel J.¹,Zimmer A.D.¹^ORCID,Alter S.¹,Happle R.⁷,Fischer J.¹^ORCID

Affiliation:

1. Institute of Human Genetics Medical Center – University of Freiburg Faculty of Medicine University of Freiburg FreiburgGermany

2. Faculty of Biology University of Freiburg Freiburg Germany

3. Department of Dermatology Hôpital Saint‐Louis Paris France

4. Department of Dermatology Bocage Hospital Dijon France

5. L'équipe Génétique des Anomalies du Développement INSERM UMR1231 Université de Bourgogne‐Franche Comté Dijon France

6. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs FHU TRANSLAD Hôpital d'Enfants CHU Dijon et Université de Bourgogne Dijon France

7. Department of Dermatology Medical Center – University of Freiburg Faculty of Medicine University of Freiburg FreiburgGermany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.17024

Reference14 articles.

1. Focal Dermal Hypoplasia

2. Focal dermal hypoplasia syndrome;Gorlin RJ;Acta Derm Venereol,1963

3. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

4. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

5. A Blaschko

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