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Focal Dermal Hypoplasia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Focal Dermal Hypoplasia" returned 0 free, full-text review articles. First 0 results:
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Last Updated: Nov 29, 2017

Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype are not straightforward impacting the quality of the prenatal ...

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.
Last Updated: Mar 10, 2014

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling ...

Focal dermal hypoplasia: updates.
Last Updated: Dec 10, 2013

Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Focal Dermal Hypoplasia" returned 0 free, full-text editorial articles. First 0 results:
Focal dermal hypoplasia.
Last Updated: Sep 07, 2019

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0 Free Editorials 2 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Focal Dermal Hypoplasia" returned 28 free, full-text research articles. First few results:
[Focal dermal hypoplasia (Goltz syndrome)].
Last Updated: Aug 06, 2019

Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is ...

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.
Last Updated: May 30, 2018

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, ...

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28 Free Research Articles 149 Research Articles