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Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562
In one family we observed intrafamilial variability of clinical course: severe L-CMD in the male proband, intermediate form in his sister and asymptomatic in their mother. ...
In one family we observed intrafamilial variability of clinical course: severe L-CMD in the male proband, intermediate form in his si …
Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population.
Lind J, Wallenburg HC. Lind J, et al. Acta Obstet Gynecol Scand. 2002 Apr;81(4):293-300. doi: 10.1034/j.1600-0412.2002.810403.x. Acta Obstet Gynecol Scand. 2002. PMID: 11952457 Free article.
BACKGROUND: The study was carried out to assess the course and outcome of pregnancies in women with the Ehlers-Danlos syndrome, with the aim of developing guidelines for assessment of risk and counseling, and for providing optimum medical and obstetric care. ...
BACKGROUND: The study was carried out to assess the course and outcome of pregnancies in women with the Ehlers-Danlos syndrome, with …
Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient.
Liu M, Wang Y, Yang S, Wei H, Tuo M, Chang F, Wang Y. Liu M, et al. Int J Dev Neurosci. 2019 May;74:56-60. doi: 10.1016/j.ijdevneu.2018.09.004. Epub 2018 Sep 12. Int J Dev Neurosci. 2019. PMID: 30217625
CONCLUSION: Based on the location of the eight candidate genes in Xq13.1, the large duplication found by SNP array does indeed exist and is predicted to be both novel and pathogenic. Moreover, we recommend SNP array as the first option for genetic diagnosis of both large-s …
CONCLUSION: Based on the location of the eight candidate genes in Xq13.1, the large duplication found by SNP array does indeed exist and is …