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April 2022 - Volume 31 - Issue 2
pp: 55-108

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; More

Clinical Dysmorphology. 31(2):66-70, April 2022.

Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype

Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; More

Clinical Dysmorphology. 31(2):74-78, April 2022.

Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient

Paz-Ramírez, Monserrat; Muñoz-Martínez, Linda B.; Morales-Jiménez, Ariadna B.; More

Clinical Dysmorphology. 31(2):94-97, April 2022.