• Issue

    Clinical Genetics: Volume 38, Issue 3

    161-239
    September 1990
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Original Article

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Friedreich's ataxia: a descriptive epidemiological study in an Italian population

Maurizio Leone,  Francesco Brignolio,  Maria Gabriella Rosso,  Emilio Sergio Curtoni,  Antonio Moroni,  Antonella Tribolo,  Davide Schiffer, 
  • Pages: 161-169
  • First Published: September 1990
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Familial caudal dysgenesis: evidence for a major dominant gene

Noreen L. Rudd,  Mary L. Klimek, 
  • Pages: 170-175
  • First Published: September 1990
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Phenotypic variability in Meckel–Gruber syndrome

T. I. Farag,  R. Usha,  R. Uma,  S. A. Mady,  K. Al-Nagdy,  M. H. El-Badramany, 
  • Pages: 176-179
  • First Published: September 1990
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Very early onset Huntington's disease: genetic mechanism and risk to siblings

David J. Clarke,  Sarah Bundey, 
  • Pages: 180-186
  • First Published: September 1990
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Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families

Anna-Elina Lehesjoki,  Vesa Rasi,  Albert de la Chapelle, 
  • Pages: 187-197
  • First Published: September 1990
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Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review

Erik J. Roskes,  Joann A. Boughman,  Stuart Schwartz,  Maimon M. Cohen, 
  • Pages: 198-210
  • First Published: September 1990
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An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS

N. J. Leschot,  H. H. H. Kanhai,  C. J. van Asperen,  H. Wolf,  K. Boer,  A. C. van Prooijen-Knegt,  G. C. M. L. Christiaens,  M. Verjaal,  E. Briet, 
  • Pages: 211-217
  • First Published: September 1990
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Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients

M. Clara Sa Miranda,  Johannes M. F. G. Aerts,  Rui Pinto,  Augusta Fontes,  Lucia Wanzeller de Lacerda,  Sonja van Weely,  John Barranger,  Joseph M. Tager, 
  • Pages: 218-227
  • First Published: September 1990

Case Report

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Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies

A. M. Roodhooft,  C. C. Brussaard,  E. Elst,  K. J. van Acker, 
  • Pages: 228-232
  • First Published: September 1990
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Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

William Reardon,  I. Karen Temple,  Barry Jones,  Michael Baraitser, 
  • Pages: 233-236
  • First Published: September 1990

Letter to the Editors

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Letter to the Editors: The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed

Talaat I. Farag,  Ahmad S. Teebi, 
  • Pages: 237-239
  • First Published: September 1990