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Genetic Findings in Studied Individuals with Lung Hypoplasia
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Genetic Findings in Studied Individuals with Lung Hypoplasia
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Genetic Findings in Studied Individuals with Lung Hypoplasia
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Genetic Findings in Studied Individuals with Lung Hypoplasia
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Genetic Findings in Studied Individuals with Lung Hypoplasia

Journal: American Journal of Human Genetics

Article Title: Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

doi: 10.1016/j.ajhg.2018.12.010

Figure Lengend Snippet: Genetic Findings in Studied Individuals with Lung Hypoplasia

Article Snippet: Chromosomal Microarray Analyses aCGH was performed using GenomeDx v5 custom designed array (GeneDx) (P006), Agilent Sureprint C3Hmn 400K array (P019), or 60K Agilent array (the ISCA v.2 design) (P003, P009, P012, P015/16, P046, and P073) (Agilent Technologies).

Techniques:

Non-coding SNVs Identified in Affected Individuals with Heterozygous Coding CNVs and Point Mutations Involving TBX4 Absent in the Control Individuals with 17q23.1q23.2 Deletion

Journal: American Journal of Human Genetics

Article Title: Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

doi: 10.1016/j.ajhg.2018.12.010

Figure Lengend Snippet: Non-coding SNVs Identified in Affected Individuals with Heterozygous Coding CNVs and Point Mutations Involving TBX4 Absent in the Control Individuals with 17q23.1q23.2 Deletion

Article Snippet: Chromosomal Microarray Analyses aCGH was performed using GenomeDx v5 custom designed array (GeneDx) (P006), Agilent Sureprint C3Hmn 400K array (P019), or 60K Agilent array (the ISCA v.2 design) (P003, P009, P012, P015/16, P046, and P073) (Agilent Technologies).

Techniques: