October 2017 - Volume 26 - Issue 4
pp: 195-255

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.

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring

Domínguez, María G.; Rivera, Horacio; Aguilar-Lemarroy, Adriana; More

Clinical Dysmorphology. 26(4):209-216, October 2017.


First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

Vuillaume, Marie-Laure; Valard, Anna-Gaelle; Houcinat, Nada; More

Clinical Dysmorphology. 26(4):231-234, October 2017.