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Results 1 - 10 of 16 for Carpenter syndrome 2
  1. Carpenter syndrome 
    ... Disorders (NORD) ClinicalTrials.gov CARPENTER SYNDROME 1; CRPT1 CARPENTER SYNDROME 2; CRPT2 PubMed Alessandri JL, Dagoneau N, Laville JM, ... AO. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome ... lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  2. MEGF8 gene 
    ... AO. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/megf8 - Genetics
  3. Alpha thalassemia X-linked intellectual disability syndrome 
    ... DR. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:33.0.CO;2-X. Citation on PubMed Gibbons RJ, Suthers GK, ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  4. Idiopathic infantile hypercalcemia 
    ... ClinicalTrials.gov HYPERCALCEMIA, INFANTILE, 1; HCINF1 HYPERCALCEMIA, INFANTILE, 2; HCINF2 PubMed Carpenter TO. CYP24A1 loss of function: Clinical phenotype of ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  5. Andermann syndrome 
    ... regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this ... population. Can J Neurol Sci. 2006 May;33(2):149-57. doi: ... M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  6. Riboflavin transporter deficiency neuronopathy 
    ... once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions have similar signs and symptoms, but Fazio- ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  7. Sotos syndrome 
    ... Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  8. NSD1 gene 
    ... Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  9. SLC16A2 gene 
    ... the signs and symptoms of Allan-Herndon-Dudley syndrome. More About This Health Condition DXS128E MCT8 monocarboxylate transporter 8 MOT8_HUMAN solute carrier family 16 (monocarboxylic acid transporters), member 2 solute carrier family 16, member 2 (monocarboxylic acid ...
    https://medlineplus.gov/genetics/gene/slc16a2 - Genetics
  10. Allan-Herndon-Dudley syndrome 
    ... article on PubMed Central Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
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