Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 177-184

  Von Gernet, Steven ^a   Schuffenhauer, Simone ^b   Golla, Astrid ^b   Lichtner, Peter ^b   Balg, Stefanie ^c   Mühlbauer, Wolfgang ^a   Murken, Jan ^b   Fairley, Jeffrey ^a,d   Meitinger, Thomas ^b  

^a KLINIKUM BOGENHAUSEN   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c Genetische Diagnostik und Beratungsstelle am Kinderzentrum   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

craniosynostosis; heterogeneity; linkage analysis; Saethre Chotzen syndrome

Indexed keywords

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 7P; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; FEMALE; FINGER MALFORMATION; GENETIC LINKAGE; HUMAN; INFANT; MALE; PEDIGREE; PRIORITY JOURNAL; PTOSIS; STRABISMUS; SYNDACTYLY; TOE MALFORMATION;

ACROCEPHALOSYNDACTYLIA; ADULT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; FACE; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GENOTYPE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; SKULL; SOFTWARE; SYNDROME;

EID: 0029876131     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.0.CO;2-J     Document Type: Article

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