Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome-Reference-Cited by-同舟云学术

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome

Published:2024-05-14 Issue:6 Volume:143 Page:739-745
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum. Genet.

Author:

AlAbdi Lama,Neuhann Teresa,Prott Eva-Christina,Schön Ulrike,Abdulwahab Firdous,Faqeih Eissa,Alkuraya Fowzan S.

Funder

King Fahad Medical City

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00439-024-02677-y.pdf

Reference24 articles.

1. AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O (2023) Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. Nat Commun 14:5269

2. Apperley J (2009) Issues of imatinib and pregnancy outcome. J Natl Compr Canc Netw 7:1050–1058

3. Brasher BB, Van Etten RA (2000) c-Abl has high intrinsic tyrosine kinase activity that is stimulated by mutation of the Src homology 3 domain and by autophosphorylation at two distinct regulatory tyrosines. J Biol Chem 275:35631–35637

4. Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MC, Pfundt R, Prasad C, Berard RA, Fannemel M (2020) The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Hum Mutat 41:1738–1744

5. Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, Ockeloen CW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Campeau PM, Palmer EE, Van Esch H, Lyon GJ, Alkuraya FS, Rauch A, Marom R, Baralle D, van der Sluijs PJ, Santen GWE, Kooy RF, van Gerven MAJ, Vissers L, de Vries BBA (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nat Genet 55:1598–1607. https://doi.org/10.1038/s41588-023-01469-w

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases;Clinical Genetics;2024-08-18