Clinical photos of the patients. (a) Case 1: Dysmorphic facial
Por um escritor misterioso
Last updated 25 abril 2025


Frontiers NFIA haploinsufficiency: case series and literature review

A,B) Study subject 1 at age 8 years. No dysmorphic facial features

Dysmorphic features of our patient. Facial dysmorphism (coarse

Genes, Free Full-Text

Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset

Accelerating matchmaking of novel dysmorphology syndromes through

A de novo chromosome 9p duplication in a female child with short

Images showing dysmorphic profiles involving facial features

Novel de novo EEF1A2 missense mutations causing epilepsy and

Population-specific facial traits and diagnosis accuracy of

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Cureus Bardet-Biedl Syndrome: A Rare Case From Ophthalmology

Detailed characterization of, and clinical correlations in, 10
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