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The identity of Prunusdielsiana (Rosaceae).
Wu B, Potter D, Cui D. Wu B, et al. PhytoKeys. 2019 Jul 12;126:71-77. doi: 10.3897/phytokeys.126.35305. eCollection 2019. PhytoKeys. 2019. PMID: 31346310 Free PMC article.
In addition, all previously named varieties of Prunusdielsiana, including var. abbreviata, var. conferta, and var. laxa, as well as P.carcharias are also listed as synonyms of P.rufoides in the present paper....
In addition, all previously named varieties of Prunusdielsiana, including var. abbreviata, var. conferta, and var. laxa, as well as P …
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
Lin DS, Yeung CY, Liu HL, Ho CS, Shu CH, Chuang CK, Huang YW, Wu TY, Huang ZD, Jian YR, Lin SP. Lin DS, et al. Am J Med Genet A. 2011 Jun;155A(6):1285-9. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567914
The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable systemic involvement including intrauterine growth retardation, failure to thrive, developmenta …
The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wri …
Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
Liang J, Guo Y, Lu Z, Yu H, Wu L, Yao Z. Liang J, et al. J Dermatol. 2022 Jan;49(1):161-164. doi: 10.1111/1346-8138.16177. Epub 2021 Oct 2. J Dermatol. 2022. PMID: 34601768
Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS …
Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild …
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, Shu CH, Chiang MF, Chuang CK, Huang YW, Wu TY, Jian YR, Huang ZD, Lin SP. Lin DS, et al. Am J Med Genet A. 2011 Dec;155A(12):3095-9. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052856
De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. ...
De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis …