Pfeiffer's type of acrocephalosyndactyly in two families

Pfeiffer's type of acrocephalosyndactyly in two families

Two additional families with Pfeiffer's syndrome are reported in which the wide variability of gene expression is demonstrated.

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Bibliographische Detailangaben
Veröffentlicht in:Journal of medical genetics 1982-08, Vol.19 (4), p.289-292
Hauptverfasser: Vanek, J., Losan, F.
Format: Artikel
Sprache:eng
Schlagworte:
Acrocephalosyndactylia - diagnostic imaging
Acrocephalosyndactylia - genetics
Adult
Child
Female
Gene expression
Humans
Male
Middle Aged
Pedigree
Radiography
Skull - diagnostic imaging
Syndrome
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Beschreibung
Zusammenfassung:Two additional families with Pfeiffer's syndrome are reported in which the wide variability of gene expression is demonstrated.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.19.4.289