Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia

Author:

Castori Marco1,Pascolini Giulia12,Parisi Valentina3,Sana Maria Elena4,Novelli Antonio3,Nürnberg Peter5,Iascone Maria4,Grammatico Paola1

Affiliation:

1. Department of Molecular Medicine; Division of Medical Genetics; Sapienza University; San Camillo-Forlanini Hospital Rome Italy

2. Department of Experimental Medicine; Division of Medical Genetics; Sapienza University; Umberto I Hospital; Rome Italy

3. Mendel Laboratory; Casa Sollievo della Sofferenza Hospital; IRCCS; San Giovanni Rotondo Italy

4. Laboratory of Medical Genetics; Papa Giovanni XXIII Hospital; Bergamo Italy

5. Cologne Center for Genomics; Center for Molecular Medicine Cologne and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases; University of Cologne; Cologne Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Case report 33;Bass;Syndrome Identification,1975

2. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2;Bornholdt;Hum Mutat,2013

3. A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature;Cabala;Clin Dysmorphol,2013

4. Odontotrichomelic hypohidrotic dysplasia: A clinical reappraisal;Cat;Hum Hered,1972

5. Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies;Dumić;Am J Med Genet,2000

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