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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
RADIOGRAPHICS, ISSN 0271-5333, 03/2019, Volume 39, Issue 2, pp. 491 - 515
Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features.... 
PARKES-WEBER-SYNDROME | MALFORMATIONS | TUBEROUS SCLEROSIS COMPLEX | FACIAL ANGIOFIBROMAS | KLIPPEL-TRENAUNAY-SYNDROME | PTEN MUTATIONS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | SEGMENTAL OVERGROWTH | ACTIVATING MUTATIONS | SOMATIC MUTATIONS | CLOVES SYNDROME
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2016, Volume 172, Issue 4, pp. 402 - 421
Journal Article
Journal Article
ISSN 1552-4825, 2017
We designate a novel term "isolated lateralized overgrowth" (ILO) for the findings previously described as "isolated hemihypertrophy" and "isolated... 
Beckwith-Wiedemann syndrome | isolated hemihypertrophy | lateralized overgrowth | isolated lateralized overgrowth | isolated unilateral overgrowth | isolated hemihyperplasia | segmental overgrowth
Journal Article
JAAD Case Reports, ISSN 2352-5126, 11/2018, Volume 4, Issue 10, pp. 1080 - 1082
Journal Article
MEDIZINISCHE GENETIK, ISSN 1863-5490, 12/2017, Volume 29, Issue 3, pp. 306 - 313
It has long been suspected that segmental overgrowth syndromes are caused by somatic mosaic mutations (postzygotic mutations); however, the genetic changes can... 
CAPILLARY MALFORMATION | PIK3CA MUTATIONS | EPIDERMAL-NEVI | Segmental overgrowth | ARTERIOVENOUS-MALFORMATION | PI3K-AKT signaling pathway | SOMATIC MUTATIONS | Somatic mosaic mutations | GENETICS & HEREDITY | Postzygotic mutations | SPECTRUM PROS | PROTEUS-SYNDROME | ACTIVATING MUTATIONS | CLOVES SYNDROME | MARMORATA-TELANGIECTATICA-CONGENITA
Journal Article
Seminars in Cutaneous Medicine and Surgery, ISSN 1085-5629, 2016, Volume 35, Issue 3, pp. 128 - 136
Journal Article