Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Author:
Funder
CureKids NZ
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-021-00902-0.pdf
Reference19 articles.
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2. Chen S, Ursell PC, Adatia I, Hislop AA, Giannikopoulos P, Hornberger LK. Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins. Ultrasound Obstet Gynecol. 2010;35:113–6.
3. Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, et al. Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis. Ultrasound Obstet Gynecol. 2012;40:724–5.
4. Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, et al. Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing. Hum Mutat. 2016;37:955–63.
5. Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, et al. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016;170:2440–4.
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