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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: essaddam l. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534 Free PMC article.
A rare cause of cyanosis: Congenital methemoglobinemia.
Guedri R, Missaoui N, Essaddam L, Ben Becher S. Guedri R, et al. Among authors: essaddam l. Clin Case Rep. 2021 Jul 10;9(7):e04422. doi: 10.1002/ccr3.4422. eCollection 2021 Jul. Clin Case Rep. 2021. PMID: 34267908 Free PMC article.
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
Essaddam L, Zitouni O, Kraoua L, Trabelsi M, Sassi H, Kmiha S, Charfi F, El Guiche D, Kebaïli R, Jaballah N, Rjeb M, Zouari N, El Aribi Y, Hizem S, Wannes S, Fkih Romdhane I, Sfar MT, Ben Hamouda H, Hadj Salem R, Khlayfia Z, Khmiss T, Monastiri K, Siala N, Chouchane S, Souaa H, Khochtali I, Mahjoub B, Sfar H, Ben Jemâa L, Abroug S, Boughamoura L, Kamoun I, Kamoun T, Mrad R, Ben Becher S. Essaddam L, et al. J Pediatr Endocrinol Metab. 2023 Apr 21;36(6):577-583. doi: 10.1515/jpem-2022-0360. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37084413
Central system nervous tuberculosis in infants.
Tinsa F, Essaddam L, Fitouri Z, Boussetta K, Ben Becher S, Bousnina S. Tinsa F, et al. Among authors: essaddam l. J Child Neurol. 2010 Jan;25(1):102-6. doi: 10.1177/0883073809336129. J Child Neurol. 2010. PMID: 20032518
17 results