Most Popular Articles : Clinical Dysmorphology

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Most Popular Articles

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More

Clinical Dysmorphology. 25(4):135-145, October 2016.

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; More

Clinical Dysmorphology. 30(2):76-82, April 2021.

Cantu syndrome and lymphoedema

García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; More

Clinical Dysmorphology. 20(1):32-37, January 2011.

RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature

Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; More

Clinical Dysmorphology. 26(4):195-199, October 2017.

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.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation

Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; More

Clinical Dysmorphology. 31(1):11-17, January 2022.

A severe prenatal presentation of Cat Eye Syndrome

Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; More

Clinical Dysmorphology. 22(4):175-177, October 2013.