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

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Human mutation - 1 Dec 2001

Zhang Y H, Huang B L, Anyane-Yeboa K, Carvalho J A, Clemons R D, Cole T, De Figueiredo B C, Lubinsky M, Metzger D L, Quadrelli R, Repaske D R, Reyno S, Seaver L H, Vaglio A, Van Vliet G, McCabe L L, McCabe E R, Phelan J K

Abstract excerpt

X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629del...

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 Codon, Nonsense
Share to DAX-1 Orphan Nuclear Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Mutation, Missense

Share to Receptors, Retinoic Acid

Share to Repressor Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 11748852
DOI: 10.1002/humu.1236

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11748852-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.PMID 11748852Read ↗

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

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.Semantic proximity Read ↗

A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene.Semantic proximity Read ↗

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Semantic proximity Read ↗

NR0B1A: an alternatively spliced form of NR0B1.Semantic proximity Read ↗

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].Semantic proximity Read ↗

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.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 ↗

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

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

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

[X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1 (DAX1): a case report].Semantic proximity Read ↗

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