Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

Author:

Spielmann Malte123,Marx Sylvie4,Barbi Gotthold5,Flöttmann Ricarda1,Kehrer-Sawatzki Hildegard5,König Rainer6,Horn Denise1,Mundlos Stefan123,Nader Sean4,Borck Guntram5

Affiliation:

1. Institute for Medical and Human Genetics; Charité-Universitätsmedizin Berlin; Berlin Germany

2. Max Planck Institute for Molecular Genetics; Berlin Germany

3. Berlin-Brandenburg Center for Regenerative Therapies (BCRT); Berlin Germany

4. Department of Pediatric Orthopedics; Schön Klinik Vogtareuth; Vogtareuth Germany

5. Institute of Human Genetics; University of Ulm; Ulm Germany

6. Institute of Human Genetics; University of Frankfurt; Frankfurt/Main Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Femoral hypoplasia unusual facies syndrome with preaxial polydactyly;Baraitser;Clin Dysmorphol,1994

2. Diabetic embryopathy: A developmental perspective from fertilization to adulthood;Castori;Mol Syndromol,2013

3. Femoral hypoplasia-unusual facies syndrome;Daentl;J Pediatr,1975

4. Chromosome 2q37 deletion: Clinical and molecular aspects;Falk;Am J Med Genet C Semin Med Genet,2007

5. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources;Firth;Am J Hum Genet,2009

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