Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

SATB2‐Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been described in the literature. We describe 17 additional indi...

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Veröffentlicht in:	Clinical genetics 2021-04, Vol.99 (4), p.547-557
Hauptverfasser:	Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.
Format:	Artikel
Sprache:	eng
Schlagworte:	2q33.1 deletion Adult Aorta Bone morphogenetic protein receptor type II Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 - genetics Chromosomes, Human, Pair 2 - ultrastructure Collagen Type III - deficiency Collagen Type III - genetics Collagen Type V - deficiency Collagen Type V - genetics Dwarfism - genetics Face - abnormalities facial recognition technology Female Genetic Association Studies Genotypes genotype–phenotype correlation Gestational Age glass syndrome Hereditary diseases Humans Hypertension, Pulmonary - genetics Image processing Infant Male Matrix Attachment Region Binding Proteins - deficiency Matrix Attachment Region Binding Proteins - genetics Microcephaly - genetics Molecular modelling Neurodevelopmental disorders Phenotype Phenotypes SATB2 SATB2‐associated syndrome Thinness - genetics Transcription Factors - deficiency Transcription Factors - genetics Underweight
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