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SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

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SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6552745

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

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Full title

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

Author / Creator

Delaney, Angela , Volochayev, Rita , Meader, Brooke , Lee, Janice , Almpani, Nadine , Noukelak, Germaine , Brooks, Brian , Henkind, Jennifer , Chalmers, Laura , Law, Jennifer , Williamson, Kathleen , Jacobsen, Christina , Buitrago, Tatiana Pineda , Silva, Orlando Perez , Chie-Hee, Cho , Kaindl, Angela , Anita, Rauch , steindl, Katharina , Garcia-Ortiz, Jose , Bart, Loeys , Russell, Bianca , Prasad, Rameshwar , Mondal, Uttam , Reigstad, Hallvard Martin , Clements, Scott , Salnikov, Kathryn , DiOrio, Nicole , Balasubramanian, Ravikumar , Dwyer, Andrew , Seminara, Stephanie , Crowley, William , Plummer, Lacey , Hall, Janet , Graham, John , Lin, Angela and Shaw, Natalie

Publisher

Washington, DC: Endocrine Society

Journal title

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

Language

English

Formats

Articles

Publication information

Publisher

Washington, DC: Endocrine Society

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Congenital arhinia (absent external nose) is an extremely rare mendelian disorder (<100 case reports in the past century) caused by heterozygous missense mutations in the gene
SMCHD1
. Arhinia is frequently accompanied by ocular and reproductive defects, a clinical triad which defines the Bosma arhinia microphthalmia syndrome (BAMS). The etio...

Alternative Titles

Full title

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

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Author / Creator

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Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6552745

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6552745

Other Identifiers

ISSN

2472-1972

E-ISSN

2472-1972

DOI

10.1210/js.2019-SUN-219

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