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Results 1 - 10 of 18 for Carpenter syndrome
  1. Carpenter syndrome 
    Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  2. RAB23 gene 
    ... the RAB23 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger ... mutation that is frequently seen in individuals with Carpenter syndrome who are of northern European ancestry replaces the ...
    https://medlineplus.gov/genetics/gene/rab23 - Genetics
  3. MEGF8 gene 
    ... the MEGF8 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger ... It is unclear how MEGF8 gene mutations cause Carpenter syndrome. The mutations likely interfere with normal patterning of ...
    https://medlineplus.gov/genetics/gene/megf8 - Genetics
  4. Alpha thalassemia X-linked intellectual disability syndrome 
    Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  5. 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
  6. SLC16A2 gene 
    ... 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/genetics/gene/slc16a2 - Genetics
  7. COL18A1 gene 
    ... OT, Sertie AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, ... heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002 Dec;71(6): ...
    https://medlineplus.gov/genetics/gene/col18a1 - Genetics
  8. NSD1 gene 
    ... N, Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Citation on PubMed Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB. Role for the nuclear receptor-binding SET ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  9. Sotos syndrome 
    ... PubMed Lapunzina P. Risk of tumorigenesis in overgrowth ... JE, Veerappan CS, Rice JC, Carpenter PB. Role for the nuclear receptor-binding SET ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  10. Andermann syndrome 
    ... Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
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