Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1-Reference-Cited by-同舟云学术

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Published:2017-02-23 Issue:6 Volume:62 Page:661-663
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Bhola Priya T,Hartley Taila,Bareke Eric,Boycott K M,MacKenzie A E,Majewski J,Brudno M,Bulman D E,Dyment D A,Boycott Kym M,Nikkel Sarah M,Dyment David A,

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201718.pdf

Reference17 articles.

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2. Guerra, D., Fornieri, C., Bacchelli, B., Lugli, L., Torelli, P., Balli, F. et al. The De Barsy syndrome. J. Cutan. Pathol. 31, 616–624 (2004).

3. Kivuva, E. C., Parker, M. J., Cohen, M. C., Wagner, B. E. & Sobey, G. De Barsy syndrome: a review of the phenotype. Clin Dysmorphol. 17, 99–107 (2008).

4. Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y. et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat. Genet. 41, 1016–1021 (2009).

5. Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A. & Robertson, S. P. A missense mutation in ALDH18A1, encoding Δ1 -pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur. J. Hum. Genet. 1691, 1176–1186 (2008).

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