[HTML][HTML] Solitary median maxillary central incisor syndrome: an exploration of the pathogenic mechanism
J Li, D Liu, Y Liu, C Zhang, S Zheng - Frontiers in Genetics, 2022 - frontiersin.org
… The de novo 18p deletion resulted in SMMCI in the … deletion at chromosome 18p11.32-11.21
(chr18:10,001-15,199,661) x1 (h19). (B) A view of deleted disease-associated genes in the …
(chr18:10,001-15,199,661) x1 (h19). (B) A view of deleted disease-associated genes in the …
Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature
E Gökpınar İli, Ş Altıner, HG Karabulut - Cytogenetic and Genome …, 2019 - karger.com
… derivative chromosome 18 which includes a terminal deletion of 18p and a terminal duplication
… 18-trisomy syndrome - two new clinical variants. One with associated tracheoesophageal …
… 18-trisomy syndrome - two new clinical variants. One with associated tracheoesophageal …
Pituitary transcription factor mutations leading to hypopituitarism
P Gergics - Genetics of Endocrine Diseases and Syndromes, 2019 - Springer
… ranging from holoprosencephaly through septo-… deletions are all common with OTX2.
Although some reviews suggest that variants in the N-terminal region of the protein are associated …
Although some reviews suggest that variants in the N-terminal region of the protein are associated …