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American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170A, Issue 7, pp. 1820 - 1825
In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature,... 
Trichorhinophalangeal syndrome type 1 | concomitant mutations | exome sequencing | ARSACS | syndrome | Fitzsimmons syndrome | AUTISM SPECTRUM DISORDERS | DISCOVERY | DELETION | INTELLECTUAL DISABILITY | CONE-SHAPED EPIPHYSES | SPASTIC PARAPLEGIA | TBL1XR1 | DYSARTHRIA | GENES | GENETICS & HEREDITY | Spastic Paraplegia, Hereditary - genetics | Dysarthria - physiopathology | Hair Diseases - genetics | Nose - abnormalities | Brachydactyly - physiopathology | Dysarthria - diagnosis | Spastic Paraplegia, Hereditary - diagnosis | Humans | Male | Fingers - physiopathology | Spinocerebellar Ataxias - congenital | Heat-Shock Proteins - genetics | Spinocerebellar Ataxias - diagnosis | Hair Diseases - physiopathology | Female | Fingers - abnormalities | Nuclear Proteins - genetics | Child | Spastic Paraplegia, Hereditary - physiopathology | Langer-Giedion Syndrome - physiopathology | Spinocerebellar Ataxias - genetics | Nose - physiopathology | Langer-Giedion Syndrome - genetics | Repressor Proteins - genetics | Spinocerebellar Ataxias - physiopathology | Receptors, Cytoplasmic and Nuclear - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Exome - genetics | Brachydactyly - genetics | Brachydactyly - diagnosis | Muscle Spasticity - diagnosis | High-Throughput Nucleotide Sequencing | Muscle Spasticity - physiopathology | Muscle Spasticity - genetics | Dysarthria - genetics | Autism | Boycotts | Twins | Analysis | Genomics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 99 - 107
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2216 - 2225
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Psychiatric Genetics, ISSN 0955-8829, 03/2018, Volume 28, Issue 3, pp. 55 - 57
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HANDCHIRURGIE MIKROCHIRURGIE PLASTISCHE CHIRURGIE, ISSN 0722-1819, 02/2017, Volume 49, Issue 1, pp. 58 - 59
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2005, Volume 102, Issue 31, pp. 11005 - 11010
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European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 5, pp. 279 - 292
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