Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L (1997). "Uniparental disomy in cartilage-hair hypoplasia". European Journal of Human Genetics. 5 (1): 35–42. doi:10.1159/000484729. PMID9156319.
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clinical Genetics. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID11940090. S2CID7284120.
Hsieh, C. L.; Donlon, T. A.; Darras, B. T.; Chang, D. D.; Topper, J. N.; Clayton, D. A.; Francke, U (1990). "The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4". Genomics. 6 (3): 540–544. doi:10.1016/0888-7543(90)90483-b. PMID2328993.
Sulisalo, T; Sistonen, P; Hästbacka, J; Wadelius, C; Mäkitie, O; de la Chapelle, A; Kaitila, I (1993). "Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis". Nature Genetics. 3 (4): 338–341. doi:10.1038/ng0493-338. PMID7981754. S2CID7752268.
Mäkitie, O; Kaitila, I (1993). "Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients". European Journal of Pediatrics. 152 (3): 211–7. doi:10.1007/bf01956147. PMID8444246. S2CID10611620.
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). "Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia". The Journal of Pediatrics. 86 (6): 868–72. doi:10.1016/s0022-3476(75)80216-2. PMID165279.
Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L (1997). "Uniparental disomy in cartilage-hair hypoplasia". European Journal of Human Genetics. 5 (1): 35–42. doi:10.1159/000484729. PMID9156319.
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clinical Genetics. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID11940090. S2CID7284120.
Hsieh, C. L.; Donlon, T. A.; Darras, B. T.; Chang, D. D.; Topper, J. N.; Clayton, D. A.; Francke, U (1990). "The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4". Genomics. 6 (3): 540–544. doi:10.1016/0888-7543(90)90483-b. PMID2328993.
Sulisalo, T; Sistonen, P; Hästbacka, J; Wadelius, C; Mäkitie, O; de la Chapelle, A; Kaitila, I (1993). "Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis". Nature Genetics. 3 (4): 338–341. doi:10.1038/ng0493-338. PMID7981754. S2CID7752268.
Mäkitie, O; Kaitila, I (1993). "Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients". European Journal of Pediatrics. 152 (3): 211–7. doi:10.1007/bf01956147. PMID8444246. S2CID10611620.
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). "Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia". The Journal of Pediatrics. 86 (6): 868–72. doi:10.1016/s0022-3476(75)80216-2. PMID165279.
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clinical Genetics. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID11940090. S2CID7284120.