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Schmid-Fraccaro syndrome

Coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, heart and renal malformations, near-normal or normal mental development; merge INV DUP(22)(Q11) with Cat Eye syndrome; CONSIDER MERGING Chromosome 22 partial tetrasomy
Also Known As:
Cat Eye syndrome; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11)
Networked: 76 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Jedraszak, Guillaume: 2 articles (10/2015 - 01/2015)
2. Copin, Henri: 2 articles (10/2015 - 01/2015)
3. Andrieux, Joris: 2 articles (10/2015 - 01/2015)
4. Morin, Gilles: 2 articles (10/2015 - 01/2015)
5. Receveur, Aline: 2 articles (10/2015 - 01/2015)
6. Bartsch, Oliver: 2 articles (08/2011 - 05/2005)
7. Morrow, Bernice E: 2 articles (12/2003 - 05/2002)
8. Morrow, B E: 2 articles (05/2001 - 01/2001)
9. Bremond-Gignac, Dominique: 1 article (10/2015)
10. Rochette, Jacques: 1 article (10/2015)

Related Diseases

1. Tetrasomy
2. DiGeorge Syndrome (Syndrome, DiGeorge)
3. Trisomy (Trisomies)
4. Coloboma
5. Imperforate Anus

Related Drugs and Biologics

1. Genetic Markers (Genetic Marker)
2. DNA Probes
3. Anorectal atresia
4. trisomy Chromosome 22
5. Patau syndrome
6. Schmid-Fraccaro syndrome
7. Apolipoprotein A-I (Apolipoprotein A1)
8. Adenosine Deaminase
9. Adams Oliver syndrome
10. trisomy Chromosome 8