Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene
Author:
Affiliation:
1. Garbhankur Fetal Medicine Centre Aurangabad India
2. Neuberg Centre for Genomic Medicine Ahmedabad India
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63017
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1. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
2. Mutational landscapes and phenotypic Spectrum of SWI/SNF‐related intellectual disability disorders;Bögershausen N.;Frontiers in Molecular Neuroscience,2018
3. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
4. Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge
5. Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children
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1. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males;Journal of Molecular Neuroscience;2024-01-29
2. Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome;European Journal of Medical Genetics;2023-11
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