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Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M. Morlino S, et al. Am J Med Genet A. 2021 Mar;185(3):955-965. doi: 10.1002/ajmg.a.62047. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369135 Review.
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis laxa originally characterized by skin, skeletal, and neurological involvement, and a combined defect of N-glycosylation and O-glycosylation. …
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis l …
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A. Lissens W, et al. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10679936 Review.
Clinical symptoms can vary considerably in patients with PDH complex deficiencies, and almost equal numbers of affected males and females have been identified, suggesting an autosomal recessive mode of inheritance of the disease. However, the great majority of PDH c …
Clinical symptoms can vary considerably in patients with PDH complex deficiencies, and almost equal numbers of affected males and females ha …
[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties].
Parent P, Moulin S, Munck MR, de Parscau L, Alix D. Parent P, et al. Arch Pediatr. 1996 Jan;3(1):55-62. doi: 10.1016/s0929-693x(96)80011-x. Arch Pediatr. 1996. PMID: 8745829 Review. French.
Malformations of the central nervous system, limbs, and hair, may also be observed. On the basis of 78 cases reported in the literature, the authors discuss the validity of the morphological features of the syndrome. ...According to the radiological abnormalities, three di …
Malformations of the central nervous system, limbs, and hair, may also be observed. On the basis of 78 cases reported in the literatu …
Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations.
Chadwick B, Hunter B, Hunter L, Aldred M, Wilkie A. Chadwick B, et al. Oral Surg Oral Med Oral Pathol. 1994 Jul;78(1):57-63. doi: 10.1016/0030-4220(94)90118-x. Oral Surg Oral Med Oral Pathol. 1994. PMID: 8078665 Review.
We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the palate be added to the variable features associated with the syndrome. There is clear evidence in the literature of autosomal dominan …
We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the …