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Osteogenesis "imperfecta," type 21
- ... Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8- ...
- ... Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8- ...
- ... syndrome 2 Osteogenesis imperfecta with unusual skeletal lesions Osteogenesis imperfecta, Levin type Genetic Testing Registry: Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia National ...
- What Causes Down Syndrome?
(Eunice Kennedy Shriver National Institute of Child Health and Human Development) Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21. ... Down Syndrome/Related Issues ... - What Are Common Symptoms of Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Children with untreated PKU begin to lose interest in their surroundings by 3 to 6 months of age and are developmentally delayed by age 1. ... Phenylketonuria/ ...
- What Are the Symptoms of Polycystic Ovary Syndrome (PCOS)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Some symptoms of PCOS can include increased growth of body and facial hair, infertility, menstrual irregularities, acne, and dark patches of skin. ... Polycystic ...
- How Do Health Care Providers Diagnose Polycystic Ovary Syndrome (PCOS)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Having two or more of the characteristic features of PCOS—absence of ovulation, high androgen levels, and growths in one or both ovaries—could lead to ...
- Treatments for Infertility Resulting from Polycystic Ovary Syndrome (PCOS) (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Female Infertility/Treatments and Therapies ... Female Infertility ... In many cases, fertility problems related to PCOS result from the absence of ovulation (anovulation). ...
- What Are Menstrual Irregularities? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Menstruation/Start Here ... Menstruation ... For most women, a normal menstrual cycle ranges from 21 to 35 days.1 However, 14% to 25% of women have irregular menstrual ...
- About Down Syndrome (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Down Syndrome/Start Here ... Down Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Down syndrome describes a set of cognitive ...
(Eunice Kennedy Shriver National Institute of Child Health and Human Development) 