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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B. Le Caignec C, et al. Among authors: segev e. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630789 Free PMC article.
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E. Keret D, et al. Among authors: segev e. J Pediatr Orthop B. 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. J Pediatr Orthop B. 2002. PMID: 11943981
Congenital absence (ankylosis) of the knee.
Yaniv M, Ezra E, Wientroub S, Segev E. Yaniv M, et al. Among authors: segev e. J Bone Joint Surg Br. 2004 May;86(4):590-2. J Bone Joint Surg Br. 2004. PMID: 15174559
Bilateral symmetric stress fractures in a toddler.
Keret D, Segev E, Hayek S, Lokiec F, Wientroub S. Keret D, et al. Among authors: segev e. J Pediatr Orthop B. 2001 Jan;10(1):73-7. J Pediatr Orthop B. 2001. PMID: 11269816
112 results