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22. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. Díaz-González F; Sentchordi-Montané L; Lucas-Castro E; Modamio-Høybjør S; Heath KE Eur J Endocrinol; 2024 Jul; 191(1):38-46. PubMed ID: 38917024 [TBL] [Abstract][Full Text] [Related]
23. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. Wang J; Wang Z; An Y; Wu C; Xu Y; Fu Q; Shen Y; Zhang Q Clin Chim Acta; 2015 Jun; 446():9-14. PubMed ID: 25801215 [TBL] [Abstract][Full Text] [Related]
24. Feingold syndrome: clinical review and genetic mapping. Celli J; van Bokhoven H; Brunner HG Am J Med Genet A; 2003 Nov; 122A(4):294-300. PubMed ID: 14518066 [TBL] [Abstract][Full Text] [Related]
25. A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. Armour CM; McCready ME; Baig A; Hunter AG; Bulman DE J Med Genet; 2002 Mar; 39(3):186-8. PubMed ID: 11897820 [No Abstract] [Full Text] [Related]
26. Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. Byrnes AM; Racacho L; Grimsey A; Hudgins L; Kwan AC; Sangalli M; Kidd A; Yaron Y; Lau YL; Nikkel SM; Bulman DE Eur J Hum Genet; 2009 Sep; 17(9):1112-20. PubMed ID: 19277064 [TBL] [Abstract][Full Text] [Related]
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28. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. Farkas K; Nagy N; Kinyó A; Kemény L; Széll M Arch Dermatol Res; 2012 Oct; 304(8):679-81. PubMed ID: 22584530 [TBL] [Abstract][Full Text] [Related]
29. Indian hedgehog synchronizes skeletal angiogenesis and perichondrial maturation with cartilage development. Colnot C; de la Fuente L; Huang S; Hu D; Lu C; St-Jacques B; Helms JA Development; 2005 Mar; 132(5):1057-67. PubMed ID: 15689378 [TBL] [Abstract][Full Text] [Related]
30. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Børglum AD; Balslev T; Haagerup A; Birkebaek N; Binderup H; Kruse TA; Hertz JM Eur J Hum Genet; 2001 Oct; 9(10):753-7. PubMed ID: 11781686 [TBL] [Abstract][Full Text] [Related]
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33. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Kapoor A; Satishchandra P; Ratnapriya R; Reddy R; Kadandale J; Shankar SK; Anand A Ann Neurol; 2008 Aug; 64(2):158-67. PubMed ID: 18756473 [TBL] [Abstract][Full Text] [Related]
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37. Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations. Cormier S; Delezoide AL; Benoist-Lasselin C; Legeai-Mallet L; Bonaventure J; Silve C Am J Pathol; 2002 Oct; 161(4):1325-35. PubMed ID: 12368206 [TBL] [Abstract][Full Text] [Related]
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