PubMed for id: 322335

Year	Number of Results
1993	1
1999	2
2003	3
2006	1
2007	1
2008	1
2011	3
2012	1
2013	1
2014	1
2015	3
2017	2
2019	1
2020	2
2021	1
2022	1
2024	0

1

Holmes LB, Nasri HZ. Holmes LB, et al. Am J Med Genet A. 2022 Jun;188(6):1746-1751. doi: 10.1002/ajmg.a.62697. Epub 2022 Mar 2. Am J Med Genet A. 2022. PMID: 35234329

2

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.

Chen CP, Chan CH, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Lee MS, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2021 Jan;60(1):152-156. doi: 10.1016/j.tjog.2020.11.023. Taiwan J Obstet Gynecol. 2021. PMID: 33494992 Free article.

3

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.

Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M. Zhang M, et al. Am J Med Genet A. 2020 Oct;182(10):2432-2436. doi: 10.1002/ajmg.a.61788. Epub 2020 Aug 13. Am J Med Genet A. 2020. PMID: 32789964

4

Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.

Sato A, Suzuki T, Ikeno M, Takeda J, Yamamoto Y, Shinohara M, Makino S, Takeda S, Shimizu T, Itakura A. Sato A, et al. Eur J Med Genet. 2020 Oct;63(10):104005. doi: 10.1016/j.ejmg.2020.104005. Epub 2020 Jul 18. Eur J Med Genet. 2020. PMID: 32693209

5

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.

Huang J, Liu HY, Wang RR, Xiao H, Wu D, Li T, Jiang YH, Zhang X. Huang J, et al. Chin Med J (Engl). 2019 Jul 20;132(14):1681-1688. doi: 10.1097/CM9.0000000000000327. Chin Med J (Engl). 2019. PMID: 31283647 Free PMC article.

6

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Hoppmann J, Gesing J, Silve C, Leroy C, Bertsche A, Hirsch FW, Kiess W, Pfäffle R, Schuster V. Hoppmann J, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):360-365. doi: 10.4274/jcrpe.4488. Epub 2017 May 17. J Clin Res Pediatr Endocrinol. 2017. PMID: 28515031 Free PMC article.

7

Brachydactyly type E in an Italian family with 6p25 trisomy.

Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA. Fontana P, et al. Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111183

8

Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia.

Berio A, Garlaschi G, Mangiante G, Piazzi A. Berio A, et al. Pediatr Med Chir. 2015 Dec 29;37(3):pmc.2015.123. doi: 10.4081/pmc.2015.123. Pediatr Med Chir. 2015. PMID: 26714781 Free article.

9

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.

Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P. Lin MH, et al. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):911-8. doi: 10.1515/jpem-2014-0435. J Pediatr Endocrinol Metab. 2015. PMID: 25894639

10

De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).

Pala HG, Artunc-Ulkumen B, Uyar Y, Bal F, Baytur YB, Koyuncu FM. Pala HG, et al. Fetal Pediatr Pathol. 2015 Feb;34(1):44-8. doi: 10.3109/15513815.2014.962196. Epub 2014 Oct 7. Fetal Pediatr Pathol. 2015. PMID: 25289481

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