Author:
Utine Gülen Eda,Breckpot Jeroen,Thienpont Bernard,Alanay Yasemin,Aksoy Cemalettin,Boduroğlu Koray,Devriendt Koenraad
Subject
Genetics(clinical),Genetics
Cited by
4 articles.
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1. The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss;Radiology Case Reports;2022-01
2. Homozygous microdeletion of the ERI1
and MFHAS1
genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation;American Journal of Medical Genetics Part A;2017-05-09
3. Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1;Annals of Laboratory Medicine;2015-05-01
4. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?;American Journal of Medical Genetics Part A;2011-03-17