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Article

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Indian journal of pediatrics - 1 Dec 2018

Yesodharan Dhanya, Büschenfelde Uta Meyer Zum, Kutsche Kerstin, Mohandas Nair K, Nampoothiri Sheela

Abstract excerpt

OBJECTIVE: To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby. METHODS: The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in...

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PMID: 29383603
DOI: 10.1007/s12098-018-2632-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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