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Genetics Home Reference: LEOPARD syndrome by nih.gov Posted Mon 25 Apr 2011 3:56pm On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed April 2011 What is LEOPARD syndrome? LEOPARD syndrome is a condition that affects many ar ... Read on »
Genetics Home Reference: Schinzel-Giedion syndrome by nih.gov Posted Tue 17 Jan 2012 3:24pm On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed January 2012 What is Schinzel-Giedion syndrome? Schinzel-Giedion syndrome is a severe condition that is apparent ... Read on »
Genetics Home Reference: craniofacial-deafness-hand syndrome by nih.gov Posted Fri 24 Aug 2012 8:58am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed August 2012 What is craniofacial-deafness-hand syndrome? Craniofacial-deafness-hand syndrome is characterized by di ... Read on »
Somatic mutations in cancer and genetic syndromes by Dr. Ramunas J. Medical Doctor Posted Sun 29 Jun 2008 2:08pm As for clinical geneticist, traditionally concerned more with germline (hereditary) mutations and disease, it might be strange to search through somatic mutation (or acquired) databases. But it is obvious that understanding of cancer genetics can not be limited to only germline or somatic mutations – it must be combined approach. And then you s ... Read on »
Genetics Home Reference: Baraitser-Winter syndrome by nih.gov Posted Wed 08 May 2013 8:51am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed April 2013 What is Baraitser-Winter syndrome? Baraitser-Winter syndrome is a condition that affects th ... Read on »
Genetics Home Reference: rhizomelic chondrodysplasia punctata by nih.gov Posted Mon 26 Jul 2010 12:56pm On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed July 2010 What is rhizomelic chondrodysplasia punctata? Rhizomelic chondrodysplasia punctata i ... Read on »
Genetics Home Reference: Kleefstra syndrome by nih.gov Posted Tue 08 Mar 2011 6:18am On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed February 2011 What is Kleefstra syndrome? Kleefstra syndrome is a disorder that involves many parts of the body. ... Read on »
Genetics Home Reference: prolidase deficiency by nih.gov Posted Wed 15 Feb 2012 10:53am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed February 2012 What is prolidase deficiency? Prolidase deficiency is a disorder that causes a wide variety ... Read on »
Genetics Home Reference: Loeys-Dietz syndrome by nih.gov Posted Tue 27 Mar 2012 4:42pm On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed March 2012 What is Loeys-Dietz syndrome? Loeys-Dietz syndrome is a disorder that affects the connecti ... Read on »
Genetics Home Reference: branchio-oculo-facial syndrome by nih.gov Posted Thu 20 Sep 2012 1:01pm On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed September 2012 What is branchio-oculo-facial syndrome? Branchio-oculo-facial syndrome is a condition that affe ... Read on »