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Quoted phrase not found in phrase index: "Cutis laxa, autosomal dominant 1"
Page 1
The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.
J Pediatr Endocrinol Metab. 2022 Jul 1;35(9):1211-1214. doi: 10.1515/jpem-2022-0054. Print 2022 Sep 27.
J Pediatr Endocrinol Metab. 2022.
PMID: 35770839
Thus, the treatment with somatropin was started. The height deficit significantly improved (from -4.14 SD to -1.48 SD) without side effects during the follow-up of 4.5 years. ...
Thus, the treatment with somatropin was started. The height deficit significantly improved (from -4.14 SD to -1.48 SD) without side e …
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV.
Okuneva EG, et al.
BMC Dermatol. 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6.
BMC Dermatol. 2019.
PMID: 30704477
Free PMC article.
In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL. ...
In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. …
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