Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Journal of Medical Genetics

Volumn 37, Issue 1, 2000, Pages 52-54

  Faivre, Laurence ^a   Le Merrer, Martine ^a   Megarbane, André ^b   Gilbert, Brigitte ^c   Mortier, Geert ^d   Cusin, Veronica ^a   Munnich, Arnold ^a   Maroteaux, Pierre ^a   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c DUPUYTREN UNIVERSITY HOSPITAL   (France)

^d GHENT UNIVERSITY   (Belgium)

Author keywords

Acromesomelic dysplasia Maroteaux type; Acromesomelic dysplasias; Chromosome 9; Homozygosity mapping

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CASE REPORT; CHROMOSOME 9P; CONSANGUINITY; DISEASE SEVERITY; DWARFISM; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MAROTEAUX LAMY SYNDROME; NEWBORN; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0034011277     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.1.52     Document Type: Short Survey

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