Molecular Basis of Adducted Thumbs Syndrome in the Old Order Amish Community
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Asset Subtitle
Presenting Author - Nicole Bertsch, MS, CGC; Co-Author - Zineb Ammous, MD; Co-Author - Erik G. Puffenberger, PhD; Co-Author - Rhonda Anderson, MSN, FNP-C;
Meta Tag
Clinical History
Congenital Anomaly
Counseling
Delineation of Diseases
Dysmorphology
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Natural History
Phenotype
Phenotypic delineation of disorders
Pulmonary/respiratory malformations
Respiratory System
Co-Author Zineb Ammous, MD
Co-Author Erik G. Puffenberger, PhD
Co-Author Rhonda Anderson, MSN, FNP-C
Presenting Author Nicole Bertsch, MS, CGC
Keywords
Adducted Thumbs Syndrome
ATS
Old Order Amish
OOA
SMPD4 gene
neurodevelopmental disorder
microcephaly
arthrogryposis
structural brain anomalies
consensus splice site

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