What is the risk of a lady with familial hypophosphatemic rickets having affected children and grandchildren.

作者信息

Kainer G, Chan J C

机构信息

Division of Pediatric Nephrology, Children's Medical Center, Medical College of Virginia, Richmond 23298-0498.

出版信息

Pediatr Nephrol. 1989 Oct;3(4):472. doi: 10.1007/BF00850233.

DOI:10.1007/BF00850233

PMID:2642120

Abstract

摘要

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本文引用的文献

Familial hypophosphatemia with vitamin D-resistant rickets. II: three additional kindreds of the sex-linked dominant type with a genetic analysis of four such families.

Am J Hum Genet. 1959 Dec;11(4):311-32.

A genetic study of familial hypophosphatemia and vitamin D resistant rickets.

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Renal hypophosphatemic rickets.

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"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.

N Engl J Med. 1987 Jan 15;316(3):125-9. doi: 10.1056/NEJM198701153160302.

Of mouse and man: the hypophosphataemic genes.

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Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse.

Am J Med Genet. 1987 Aug;27(4):997-1003. doi: 10.1002/ajmg.1320270434.

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Hum Genet. 1986 Jul;73(3):271-5. doi: 10.1007/BF00401243.

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

Hum Genet. 1986 Jul;73(3):267-70. doi: 10.1007/BF00401242.

Renal hypophosphataemia has several mendelian forms.

Lancet. 1987 Oct 17;2(8564):918. doi: 10.1016/s0140-6736(87)91407-3.

X-linked hypophosphatemia: progress in characterization of genetic and metabolic defects.

Nephron. 1989;51(4):449-53. doi: 10.1159/000185374.

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