Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Núria Camats; Mónica Fernández-Cancio; Laura Audí; Primus E. Mullis; Francisca Moreno; Isabel González Casado; Juan Pedro López-Siguero; Raquel Corripio; José Antonio Bermúdez de la Vega; José Antonio Blanco; Christa E. Flück

doi:10.1371/journal.pone.0142831

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Open Access

Peer-reviewed

Research Article

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Núria Camats ,

Contributed equally to this work with: Núria Camats, Mónica Fernández-Cancio

Affiliation Pediatric Endocrinology and Diabetology, Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland
⨯
Mónica Fernández-Cancio ,

Contributed equally to this work with: Núria Camats, Mónica Fernández-Cancio

Affiliation Pediatric Endocrinology Research Unit. Vall d’Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain
⨯
Laura Audí,

Affiliation Pediatric Endocrinology Research Unit. Vall d’Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain
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Primus E. Mullis,

Affiliation Pediatric Endocrinology and Diabetology, Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland
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Francisca Moreno,

Affiliation Pediatric Endocrinology, Hospital Infantil La Fe, Valencia, Spain
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Isabel González Casado,

Affiliation Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain
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Juan Pedro López-Siguero,

Affiliation Pediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain
⨯
Raquel Corripio,

Affiliation Pediatric Endocrinology, Corporació Parc Taulí, Hospital de Sabadell, Sabadell, Spain
⨯
José Antonio Bermúdez de la Vega,

Affiliation Pediatric Endocrinology, Hospital Universitario Virgen Macarena, Sevilla, Spain
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José Antonio Blanco,

Affiliation Pediatric Urology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
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Christa E. Flück

* E-mail: christa.flueck@dkf.unibe.ch

Affiliation Pediatric Endocrinology and Diabetology, Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland
⨯

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Núria Camats,
Mónica Fernández-Cancio,
Laura Audí,
Primus E. Mullis,
Francisca Moreno,
Isabel González Casado,
Juan Pedro López-Siguero,
Raquel Corripio,
José Antonio Bermúdez de la Vega,
José Antonio Blanco

Published: November 16, 2015
https://doi.org/10.1371/journal.pone.0142831

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