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

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

Neuropediatrics - 1 Jun 2004

Hahn A, Gross C, Uyanik G, Hehr U, Hügens-Penzel M, Alzen G, Neubauer B A

Abstract excerpt

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene. We report on the clinical data of a boy with a 1-bp deletion (790 delC) resulting in a frame shift in the ARX gene and prolonged survival until age 18 months. Similar to other patients, the boy showed postnatal microcephaly, hypothalamic dysfunction, intractable neonatal...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cerebral Cortex
Share to Exocrine Pancreatic Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Homeobox

Share to Genetic Diseases, X-Linked

Share to Kidney

Share to Phosphates

Share to Urogenital Abnormalities

Source

Identifiers

PMID: 15248105
DOI: 10.1055/s-2004-817955

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.PMID 15248105Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.Semantic proximity Read ↗

Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.Semantic proximity Read ↗

X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease.Semantic proximity Read ↗

Malformations among the X-linked intellectual disability syndromes.Semantic proximity Read ↗

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability].Semantic proximity Read ↗

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.Semantic proximity Read ↗

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.Semantic proximity Read ↗

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.Semantic proximity Read ↗

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