A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
P776: Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant
On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases
Cutis Laxa Type 1 B with Recurrent E57K Variation
Orthodontic treatment of a patient with cutis laxa
, 2004