Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Qin Guijun, Ji Hongfei, Li Xialian, Ma Xiaokun, Wang Danping

Abstract excerpt

OBJECTIVE: To analyze the DAX1 (NR0B1) (dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1) gene in two Chinese families with AHC and hypogonadotrophic hypogonadism (HHG). PATIENTS AND METHODS: Two families with 4 affected males, 5 carrier females, and 4 unaffected males were investigated. Sequencing of the entire 1413-bp coding region of DAX1 (NR0B1) gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Insufficiency
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

Share to DNA Mutational Analysis

Share to Genetic Diseases, X-Linked

Share to Hypogonadism

Share to Pedigree

Share to Prognosis

Source

Identifiers

PMID: 25968435
DOI: 10.1515/jpem-2014-0156

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.PMID 25968435Read ↗

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.Semantic proximity Read ↗

Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.Semantic proximity Read ↗

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.Semantic proximity Read ↗

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.Semantic proximity Read ↗

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.Semantic proximity Read ↗

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.Semantic proximity Read ↗

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.Semantic proximity Read ↗

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.Semantic proximity Read ↗

Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.Semantic proximity Read ↗

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.Semantic proximity Read ↗

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.