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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: modaff p. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
Jugular bulb dehiscence in achondroplasia.
Pauli RM, Modaff P. Pauli RM, et al. Among authors: modaff p. Int J Pediatr Otorhinolaryngol. 1999 May 5;48(2):169-74. doi: 10.1016/s0165-5876(99)00033-6. Int J Pediatr Otorhinolaryngol. 1999. PMID: 10375043
Natural history of rhizomelic chondrodysplasia punctata.
White AL, Modaff P, Holland-Morris F, Pauli RM. White AL, et al. Among authors: modaff p. Am J Med Genet A. 2003 May 1;118A(4):332-42. doi: 10.1002/ajmg.a.20009. Am J Med Genet A. 2003. PMID: 12687664
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