Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome

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Related Experiment Videos

Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome

Related Concept Videos

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

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Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

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Related Experiment Videos

Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome

Abstract:

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