ArticleAmerican journal of human genetics1998
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 73 citations in OpenAlex.
- Sanjad-Sakati syndrome: integrated emergency care, long-term management, and expert perspectives-a narrative review.Frontiers in pediatrics · 2026Review
- A novel mutation in exon 18 ofThe Journal of international medical research · 2026Article
- Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.JCI insight · 2025Article
- HomozygousJournal of pediatric genetics · 2024Article
- Article
- Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.Sleep & breathing = Schlaf & Atmung · 2022Article
- A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?Cureus · 2022Article
- Disrupted minor intron splicing is prevalent in Mendelian disorders.Molecular genetics & genomic medicine · 2020Article
- Review
- Genetic Disorders of Parathyroid Development and Function.Endocrinology and metabolism clinics of North America · 2018Review
- Genetic Variants Associated with Circulating Parathyroid Hormone.Journal of the American Society of Nephrology : JASN · 2017Article
- Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening.Sudanese journal of paediatrics · 2016Article
- Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome.Case reports in pediatrics · 2014Article
- Hypoparathyroidism-retardation-dysmorphism syndrome.Indian journal of human genetics · 2013Article
- Neurological manifestations in children with Sanjad-Sakati syndrome.International journal of general medicine · 2013Article
- Kenny-Caffey syndrome type 1 in an Egyptian girl.Indian journal of endocrinology and metabolism · 2012Article
- Article
- Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.American journal of human genetics · 2011Article
- Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.Human genetics · 2011Article
- Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.European journal of human genetics : EJHG · 2010Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers-GGAA6F06, D1S2678, and D1S179-in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an approximately 1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42-43.
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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.