• <em>ELN</em>-Related Cutis Laxa
• A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
• Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
• Classic Ehlers-Danlos Syndrome
• Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia
• Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
• Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons
• ELN-Related Cutis Laxa
• Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
• Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy
• Lenz-Majewski syndrome in a patient from Egypt
• New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
• Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
• SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
• The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report
• Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1
• Δ¹ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder