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

Author:

Parvari Ruti,Hershkovitz Eli,Kanis Adam,Gorodischer Rafael,Shalitin Shlomit,Sheffield Val C.,Carmi Rivka

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Familial hypocalciuric hypercalcemia associated with mutations in the human Ca2+ sensing receptor gene;Aida;J Clin Endocrinol Metab,1995

2. Hypocalcemia from deficiency of and resistance to parathyroid hormone;Alon;Adv Pediatr,1985

3. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43;Barrat;Am J Hum Genet,1996

4. Localization of the Rab escort protein-2 and inositol 1,4,5-triphosphate 3-kinase genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44;Barrat;Genomics,1997

5. Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia;Bilous;N Engl J Med,1992

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