Clinical photos of the patients. (a) Case 1: Dysmorphic facial
Por um escritor misterioso
Last updated 21 janeiro 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
Genes, Free Full-Text
Cureus Bardet-Biedl Syndrome: A Rare Case From Ophthalmology
Detailed characterization of, and clinical correlations in, 10
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