A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement
S Douzgou, M Rawson, E Baselga… - Clinical …, 2022 - Wiley Online Library
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders,
depending on the developmental timing of the mutation and tissues involved. These …
depending on the developmental timing of the mutation and tissues involved. These …
When, where and which PIK3CA mutations are pathogenic in congenital disorders
A Angulo-Urarte, M Graupera - Nature Cardiovascular Research, 2022 - nature.com
PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …
Etiology of carpal tunnel syndrome in a large cohort of children
CT Rüsch, U Knirsch, DM Weber, M Rohrbach… - Children, 2021 - mdpi.com
(1) Background: Carpal tunnel syndrome (CTS), a compressive mononeuropathy of the
median nerve at the wrist, is rare in childhood and occurs most frequently due to secondary …
median nerve at the wrist, is rare in childhood and occurs most frequently due to secondary …
[HTML][HTML] Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: result of a mosaic PIK3CA mutation in the para‐axial mesoderm state
BA Ebner, KL Eschbacher, MM Jack, M Dragana… - Brain …, 2022 - ncbi.nlm.nih.gov
Lipomatosis of nerve (LN), previously known as fibrolipomatous hamartoma, is
characterized by overgrowth of mature adipose tissue within the epineurium, surrounding …
characterized by overgrowth of mature adipose tissue within the epineurium, surrounding …
Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related …
AA Maldonado, RJ Spinner, JM Carter… - Human Genetics and …, 2022 - cell.com
We read with interest the recent article by Koutlas et al., 1 ''Orofacial overgrowth with
peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is …
peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is …
Solitary Intraneural Pseudoperineuriomatous Proliferation of the Tongue
2 Ear, Nose & Throat Journal 00 (0) relevant differential diagnosis is IP, compared with
which IPP is characterized by “pseudo-onion bulbs” containing no more than 2 layers of …
which IPP is characterized by “pseudo-onion bulbs” containing no more than 2 layers of …
[图书][B] Oral Pathology in the Pediatric Patient: A Clinical Guide to the Diagnosis and Treatment of Mucosal and Submucosal Lesions
This book, now in an extensively revised second edition, is a practical, user-friendly guide to
the clinical diagnosis and treatment of the oral mucosal and intraosseous lesions most …
the clinical diagnosis and treatment of the oral mucosal and intraosseous lesions most …
Mosaicism and the taxonomy of human disease
LG Biesecker - Molecular Case Studies, 2021 - molecularcasestudies.cshlp.org
Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on
Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum …
Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum …
Oral Pathology in the Pediatric Patient
All three authors of Oral Pathology in the Pediatric Patient: A Clinical Guide to the Diagnosis
and Treatment of Mucosal and Submucosal Lesions practice clinical oral pathology and are …
and Treatment of Mucosal and Submucosal Lesions practice clinical oral pathology and are …
[引用][C] CORRESPONDENCE TO: Monárrez R, Chen Z, Dubin JA, Ingari JV. Rare peripheral nerve tumor of the median nerve. Hand Surg Rehabil 2023
AA Maldonado, CJ Klein… - Hand Surgery and …, 2023 - mayoclinic.elsevierpure.com
CORRESPONDENCE TO: Monárrez R, Chen Z, Dubin JA, Ingari JV. Rare peripheral nerve
tumor of the median nerve. Hand Surg Rehabil 2023 — Mayo Clinic Skip to main navigation …
tumor of the median nerve. Hand Surg Rehabil 2023 — Mayo Clinic Skip to main navigation …