Literature DB >> 1920373

Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.

R B Laing1, J C Dean, D W Pearson, A W Johnston.   

Abstract

We report a family with autosomal dominant cranial diabetes insipidus in which a characteristic facial appearance of hypertelorism, broad and prominent nasal bridge, short nose, and long philtrum is seen in affected members.

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Year:  1991        PMID: 1920373      PMCID: PMC1016986          DOI: 10.1136/jmg.28.8.544

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  Two different mutations of the X-chromosome causing diabetes insipidus.

Authors:  H FORSSMAN
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  Central diabetes insipidus with congenital cerebral anomaly.

Authors:  P Ehrhardt
Journal:  Br J Hosp Med       Date:  1989-04

3.  Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects.

Authors:  E B Pedersen; L U Lamm; K Albertsen; M Madsen; G Bruun-Petersen; K Henningsen; U Friedrich; K Magnusson
Journal:  Q J Med       Date:  1985-12

4.  Expression of a mutant vasopressin gene: differential polyadenylation and read-through of the mRNA 3' end in a frame-shift mutant.

Authors:  R Ivell; H Schmale; B Krisch; P Nahke; D Richter
Journal:  EMBO J       Date:  1986-05       Impact factor: 11.598

  4 in total

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