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

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

The Journal of clinical endocrinology and metabolism - 1 Jun 2020

Hietamäki Johanna, Gregory Louise C, Ayoub Sandy, Iivonen Anna-Pauliina, Vaaralahti Kirsi, Liu Xiaonan, Brandstack Nina, Buckton Andrew J, Laine Tiina, Känsäkoski Johanna, Hero Matti, Miettinen Päivi J, Varjosalo Markku, Wakeling Emma, Dattani Mehul T, Raivio Taneli

Abstract excerpt

CONTEXT: Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown. OBJECTIVE: To describe patients with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling. SETTING:...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Biomarkers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Hypopituitarism

Share to Infant

Share to Infant, Newborn

Share to Pedigree

Share to Prognosis

Source

Open in PubMed Open full text

Identifiers

PMID: 32060556
DOI: 10.1210/clinem/dgaa078
PMCID: PMC7138537

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.PMID 32060556Read ↗

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.Semantic proximity Read ↗

The Molecular Basis of Congenital Hypopituitarism and Related Disorders.Semantic proximity Read ↗

Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.Semantic proximity Read ↗

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.Semantic proximity Read ↗

Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.Semantic proximity Read ↗

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsSemantic proximity Read ↗

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.Semantic proximity Read ↗

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.Semantic proximity Read ↗

The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.Semantic proximity Read ↗

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.Semantic proximity Read ↗

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Semantic proximity Read ↗

Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome.Semantic proximity Read ↗

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