All individuals with variants in gene PLOD3

11 entries on 1 page. Showing entries 1 - 11.
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00294220 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00294221 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00294222 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294223 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 48 Mohammed Faruq
00301723 17-4086 PubMed: Maddirevula 2019 - M - - - - - - - ? failure to thrive, developmental delay and skeletal findings. He had no head control at 6 months, could not sit at 10 months, and only walked at 2 years. He has history of undescended right testicle status post orchidopexy. Examination revealed microcephaly, truncal hypotonia, flat occiput, midface hypoplasia, bilateral ptosis, blue sclera, depressed nasal bridge, micrognathia, low set posteriorly rotated small ears, camptodactyly, and distal arthrogryposis. Parents are distant cousins and he has an affected sister. 1 1 Johan den Dunnen
00301747 patient PubMed: Salo 2008 2-generation family, 1 affected and stillborn (28w gestation) fetus, unaffected heterozygous carrier parents/relatives F no - Europe - - - - ? see paper; ..., connective tissue disorder with unique phenotype overlapping collagen disorders like Stickler syndrome, Ehlers-Danlos syndrome type IV, Ehlers-Danlos syndrome type VI, Bruck syndrome and epidermolysis bullosa 2 1 Johan den Dunnen
00301748 patient Steichen-Gersdorf 2013 ESHG P01.076 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents M no Germany - - - - - EDS severe S-formed scoliosis, ptosis right eyelid, asymmetrical face, midface hypoplasia, shallow orbitae with pseudoexophtalmus, bilateral adducted thumbs, non progressive flexion contractures proximal finger joints, atrophy thenar muscles, overall poor muscle development; 2y-bilateral sensorineural deafness; thin and soft skin, without scarring, reduced skin creases both palms; motor development slightly retarded, cognitive function mildly impaired; sister similarly affected, no significant scoliosis 1 1 Johan den Dunnen
00301749 FamPats PubMed: Ewans 2019 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents - yes Australia Lebanon - - - - EDS see paper; ..., ocular abnormalities, risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental delay, risk for vascular dissection 1 3 Johan den Dunnen
00301750 patient PubMed: Vahidnezhad 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - ? see paper; ..., extensive connective tissue abnormalities, skin blistering and erosions since birth, consistent with dystrophic forms of epidermolysis bullosa 1 1 Johan den Dunnen
00305124 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00448055 patient PubMed: Salo 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Finland - - - - - ? see paper; ..., pregnancy intrauterine growth retardation; birth 40w, weight 1.95 Kg (<0.3rd centile), length (<0.3rd centile), OFC (<0.3rd centile); shallow orbits, small nose, downturned corners mouth, low-set ears, flat facial profile; 5m-right-sided diaphragmatic eventration repaired; bilateral talipes equinovarus requiring surgical correction, flexion contractures proximal interphalangeal joints first/second/third fingers; prominent knee joints; 7y-scoliosis, no underlying vertebral malformations; platyspondyly with inferior beaking second lumbar vertebra, small capital femoral epiphyses, J-shaped sella turcica, small odontoid; osteopenia, healed fractures left clavicle, right femur, and right humerus; poor skeletal muscle bulk; profound bilateral sensorineural deafnesstreated with cochlear implantation; shallow anterior chambers, flat retinae, 7y-cataract surgery; skin creases on both palms, blistering all toes/fingers, blistering pinnae 2 1 Johan den Dunnen
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