合計: 4 |
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PMID (PMCID) | ||
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28127865 |
MALE | |
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. | ||
McCool C, Spinks-Franklin A, Noroski LM, Potocki L. Am J Med Genet A. 2017;173(3):716-720. |
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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. | ||
24376213 |
FEMALE | Young Adult |
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. | ||
Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D. Am J Med Genet A. 2014;164A(2):346-52. |
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Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. | ||
22770980 |
MIXED_SAMPLE | Infant, Newborn |
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | ||
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Am J Hum Genet. 2012;91(1):56-72. |
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | ||
22770980 |
MIXED_SAMPLE | Infant, Newborn |
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | ||
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Am J Hum Genet. 2012;91(1):56-72. |
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Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). |