Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

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Title:	Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Authors:	Baz-Redón N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain., Soler-Colomer L; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Fernández-Cancio M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Benito-Sanz S; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autonóma de Madrid, Madrid, Spain., Garrido M; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Moliné T; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Clemente M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Camats-Tarruella N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Yeste D; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Source:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Oct 11; Vol. 13, pp. 957969. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022).
Publication Type:	Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info:	Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	1664-2392
DOI:	10.3389/fendo.2022.957969