Clinical and genetic heterogeneity of hypochondroplasia

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 749-752

  Rousseau, Francis ^a   Bonaventure, Jacky ^a   Legeai Mallet, Laurence ^a   Schmidt, Heinrich ^b   Weissenbach, Jean ^c   Maroteaux, Pierre ^a   Munnich, Arnold ^a   Le Merrer, Martine ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c GÉNÉTHON   (France)

Author keywords

Heterogeneity; Hypochondroplasia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 4P; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; FOREHEAD; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAND MALFORMATION; HUMAN; HUMAN CELL; LORDOSIS; LUMBAR SPINE; MACROCEPHALY; MALE; MICROMELIA; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SKULL MALFORMATION;

EID: 0029785459     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.749     Document Type: Article

References (15)

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