ArticleAmerican journal of human genetics1997
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 66 citations in OpenAlex.
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.Molecular cytogenetics · 2022Article
- Review
- Duplication of TheBalkan journal of medical genetics : BJMG · 2019Article
- Mir505-3p regulates axonal development via inhibiting the autophagy pathway by targeting Atg12.Autophagy · 2017Article
- Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.PloS one · 2012Article
- Genetic regulation of pituitary gland development in human and mouse.Endocrine reviews · 2009Review
- Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.Journal of medical genetics · 2007Article
- Genetics of septo-optic dysplasia.Pituitary · 2007Review
- Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.American journal of human genetics · 2005Article
- Functional disomy resulting from duplications of distal Xq in four unrelated patients.Human genetics · 2004Article
- Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.Journal of medical genetics · 2004Article
- Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.Journal of medical genetics · 1998Article
- Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.Journal of medical genetics · 1998Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.
Indexed as
Identifiers
9106538PMC1712462W1826558919What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.