A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel <i>PORCN</i> Variant

Authors

Weiming Yu (ORCID: https://orcid.org/0000-0002-8408-2888)
Ian Suchet
Rati Chadha (ORCID: https://orcid.org/0000-0002-7557-4442)
Kristopher D. Langdon (ORCID: https://orcid.org/0000-0002-3717-4712)
Elaine S. Chan (ORCID: https://orcid.org/0000-0001-5260-5798)
Molly Jackson (ORCID: https://orcid.org/0000-0001-7299-3150)
Mary Ann Thomas (ORCID: https://orcid.org/0009-0006-8855-7445)

Institutions

University of Calgary (CA)
Total (Canada) (CA)

Publication Details

Journal: Prenatal Diagnosis
Published: 2025-09-03
DOI: https://doi.org/10.1002/pd.6880
Primary Topic: Genetic and rare skin diseases.
Type: article
Field-Weighted Citation Impact: 0.00

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article

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant

Weiming Yu, Ian Suchet, Rati Chadha, Kristopher D. Langdon et al.

Sep 3, 2025

Prenatal Diagnosis

Genetic and rare skin diseases.

article

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant

Weiming Yu, Ian Suchet, Rati Chadha, Kristopher D. Langdon, Elaine S. Chan, Molly Jackson, Mary Ann Thomas

September 3, 2025article en

Abstract

No abstract available for this paper.

Prenatal DiagnosisVol. 45(11)

University of Calgary (CA), Total (Canada) (CA)

Openalex Percentile: Top 74%

Genetic and rare skin diseases.

DOI Open Access PDF OpenAlex

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