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Case report

First published 2008-11

Three cases of congenital adrenal hypoplasia with novel mutations in the ( NROB1 ) DAX-1 gene

B Wheeler, P M George, K MacKenzie [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2020-2

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

Siyue Liu, Libin Yan, Xinrong Zhou [...]

Journal of International Medical Research

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Meeting report

First published 1962-11

Congenital Adrenal Hypoplasia

P J N Cox

Journal of the Royal Society of Medicine

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Case report

First published 2014-5

IMAGe Association: Report of Two Cases in Siblings with Adrenal Hypoplasia and Review of the Literature

Katherine Phillips, May R. Arroyo, Lizette Vila Duckworth

Pediatric and Developmental Pathology

Open access

Research article

First published 2024-10

A Pitfall of Adrenal Hypoplasia Congenita

Jiro Abe, Junko Tsubaki, Kazuhiro Shimura [...]

Clinical Pediatrics

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Research article

First published 1999-5

A Microdeletion within DAX-1 in X-Linked Adrenal Hypoplasia Congenita and Hypogonadotrophic Hypogonadism

Jian Wang, Donald W. Killinger, Robert A. Hegele

Journal of Investigative Medicine

Free access

Research article

First published 2008-3

Clinical and Genetic Analysis of a Korean Patient with Late-onset X-linked Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism: Identification of a Novel Mutation in the NR0B1 Gene

Y-W Lee, JC Won, C-S Ki [...]

Journal of International Medical Research

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Research article

First published 1998-11

Adrenal Fusion

Edward C. Klatt, Theodore J. Pysher, Zdena Pavlova

Pediatric and Developmental Pathology

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Research article

First published 2015-3

Autopsy features in a newborn baby affected by a central congenital diaphragmatic hernia

Giorgio Bolino, Lorenzo Gitto, Serenella Serinelli [...]

Medico-Legal Journal

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Other

First published 2010-10

The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency

Veruschka Ramanjam, Stephen Delport, Jo M. Wilmshurst

Journal of Child Neurology

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