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Results 1 - 10 of 48 for child health human development
  1. Swyer syndrome 
    ... RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013;14:371- ... EC, Vilain E. Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet. 2021 Sep;22(9):588- ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  2. Williams syndrome 
    ... AP, Maconochie M, Donnai D. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005 Nov 18;310(5751): ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  3. HTT gene 
    ... 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's disease protein IT15 ...
    https://medlineplus.gov/genetics/gene/htt - Genetics
  4. MTRR gene 
    ... associated with birth defects that occur during the development of the ... associated health problems. Researchers have not determined why there may ...
    https://medlineplus.gov/genetics/gene/mtrr - Genetics
  5. NSDHL gene 
    ... can contribute to problems with the growth and development of many parts of the body. It is not known, however, exactly how a disturbance in cholesterol synthesis leads to the specific features of CHILD syndrome. More About This Health Condition Variants in the NSDHL gene can cause ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  6. TSEN54 gene 
    ... tRNA splicing endonuclease complex leads to abnormal brain development in people with pontocerebellar hypoplasia. More About This Health Condition FLJ37147 SEN54 SEN54_HUMAN SEN54L tRNA splicing endonuclease 54 homolog tRNA splicing ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  7. MTR gene 
    ... risk of birth defects that occur during the development of the brain and ... and associated health problems, but other studies found no increased risk. ...
    https://medlineplus.gov/genetics/gene/mtr - Genetics
  8. Chromosome 17 
    ... 17q probably plays a role in both the development and progression of these cancers, the specific genetic changes related to cancer growth are unknown. National Human Genome Research Institute: Chromosome Abnormalities PubMed Armour CM, ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  9. FKRP gene 
    ... FKRP gene cause several different muscular dystrophies. FKRP_HUMAN LGMD2I MDC1C MDDGA5 MDDGB5 MDDGC5 Tests of FKRP PubMed FUKUTIN-RELATED PROTEIN; FKRP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MDDGB5 NCBI Gene ClinVar Beltran- ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  10. HPSE2 gene 
    ... 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder. More About This Health Condition heparanase 2 heparanase-2 HPA2 HPR2 HPSE2_HUMAN Tests of HPSE2 PubMed HEPARANASE 2; HPSE2 NCBI ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
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