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child health
- ... associated with type II collagen mutations. J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi: 10. ...
- ... cholesterol synthesis leads to the specific features of CHILD syndrome. More About This Health Condition Variants in the NSDHL gene can cause ... Ramphul K, Kota V, Sathe NC, Mejias SG. CHILD Syndrome. 2024 Feb 2. In: StatPearls [Internet]. Treasure Island ... Citation on PubMed
- ... may also increase the risk of having a child with Down syndrome, a condition characterized by intellectual disability and associated health problems. Researchers have not determined why there may ...
- ... variant also increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability and associated health problems, but other studies found no increased risk. ...
- ... As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington's disease (36 repeats or more). More About This Health Condition HD HD_HUMAN huntingtin (Huntington disease) Huntington' ...
- ... atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989. Citation on PubMed
- ... mutation associated with gross muscle hypertrophy in a child. N Engl J Med. 2004 Jun 24;350(26):2682-8. doi: 10.1056/NEJMoa040933. No abstract available. Citation on PubMed
- ... 0883073810377014. Epub 2010 Sep 7. Erratum In: J Child Neurol. 2012 Jun;27(6):829-31. Citation on PubMed
- ... Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 Jun;31(7):938-41. doi: 10.1177/0883073816630087. Epub 2016 Feb 18. Citation on PubMed
- ... of X-linked Charcot-Marie-Tooth Disease. J Child Neurol. 2016 May;31(6):761-72. doi: 10.1177/0883073815604227. Epub 2015 Sep 18. Citation on PubMed