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Results 1 - 10 of 27 for Hecht syndrome
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  1. Congenital contractural arachnodactyly 
    ... disorder. Arthrogyroposis, distal, type 9 Beals syndrome Beals-Hecht syndrome CCA Contractural arachnodactyly, congenital DA9 Distal arthrogyropsis type ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  2. Potocki-Shaffer syndrome 
    ... SYNDROME PubMed Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. ... involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  3. ALX4 gene 
    ... on PubMed Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. ... involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
  4. Chromosome 11 
    ... on PubMed Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. ... involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  5. Ataxia-pancytopenia syndrome 
    ... or Free article on PubMed Central Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU. Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  6. Mabry syndrome 
    ... Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  7. PGAP2 gene 
    ... Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  8. EXT2 gene 
    ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  9. SLC25A24 gene 
    ... Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz ... Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  10. Gorlin-Chaudhry-Moss syndrome 
    ... Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz ... Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am ...
    https://medlineplus.gov/.../condition/gorlin-chaudhry-moss-syndrome - Genetics
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