References
[1]
Gorlin
RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and
bifid rib. A syndrome. N Engl J Med 1960;262:908-12.
[2] Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S,
Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K,
Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M,
Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE. Mutations of the
human homolog of Drosophila patched in the nevoid basal cell carcinoma
syndrome. Cell. 1996 ; 85(6):841-51.
[3] Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM,
Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP.
Human homolog of patched,
a candidate gene for the basal cell nevus syndrome.Science. 1996; 14;
272(5268): 1668-71.
[4]
Jinghui
Zhang , Michael
F
Walsh , Gang
Wu , Michael
N
Edmonson , Tanja
A
Gruber, John
Easton, Dale
Hedges, Xiaotu
Ma, Xin
Zhou, Donald
A
Yergeau, Mark
R
Wilkinson, Bhavin
Vadodaria, Xiang
Chen, Rose
B
McGee, Stacy
Hines-Dowell, Regina
Nuccio, Emily
Quinn, Sheila
A
Shurtleff, Michael
Rusch, Aman
Patel, Jared
B
Becksfort, Shuoguo
Wang, Meaghann
S
Weaver, Li
Ding, Elaine
R
Mardis, Richard
K
Wilson, Amar
Gajjar, David
W
Ellison, Alberto
S
Pappo, Ching-Hon
Pui, Kim
E
Nichols, James
R Downing. Germline Mutations in Predisposition Genes in Pediatric
Cancer. N Engl J Med. 2015;373(24):2336-2346.
[5]
Susanne
N
Gröbner , Barbara
C
Worst, Joachim
Weischenfeldt, Ivo
Buchhalter, Kortine
Kleinheinz, Vasilisa
A
Rudneva, Pascal
D
Johann, Gnana
Prakash
Balasubramanian, Maia
Segura-Wang, Sebastian
Brabetz, Sebastian
Bender, Barbara
Hutter, Dominik
Sturm, Elke
Pfaff, Daniel
Hübschmann, Gideon
Zipprich, Michael
Heinold, Jürgen
Eils , Christian
Lawerenz, Serap
Erkek, Sander
Lambo, Sebastian
Waszak, Claudia
Blattmann, Arndt
Borkhardt, Michaela
Kuhlen, Angelika
Eggert, Simone
Fulda, Manfred
Gessler, Jenny
Wegert, Roland
Kappler, Daniel
Baumhoer, Stefan
Burdach, Renate
Kirschner-Schwabe, Udo
Kontny, Andreas
E
Kulozik, Dietmar
Lohmann, Simone
Hettmer, Cornelia
Eckert, Stefan
Bielack, Michaela
Nathrath, Charlotte
Niemeyer , Günther
H
Richter, Johannes
Schulte, Reiner
Siebert, Frank
Westermann, Jan
J
Molenaar, Gilles
Vassal, Hendrik
Witt , ICGC
PedBrain-Seq
Project; ICGC
MMML-Seq
Project; Birgit
Burkhardt , Christian
P
Kratz, Olaf
Witt, Cornelis
M van
Tilburg , Christof
M
Kramm, Gudrun
Fleischhack, Uta
Dirksen, Stefan
Rutkowski, Michael
Frühwald, Katja
von
Hoff , Stephan
Wolf, Thomas
Klingebiel, Ewa
Koscielniak, Pablo
Landgraf, Jan
Koster, Adam
C
Resnick, Jinghui
Zhang, Yanling
Liu , Xin
Zhou, Angela
J
Waanders, Danny
A
Zwijnenburg, Pichai
Raman, Benedikt
Brors, Ursula
D
Weber, Paul
A
Northcott, Kristian
W
Pajtler, Marcel
Kool, Rosario
M
Piro, Jan
O
Korbel, Matthias
Schlesner, Roland
Eils, David
T W
Jones, Peter
Lichter, Lukas
Chavez, Marc
Zapatka, Stefan
M Pfister. N Engl J Med. 2015;373(24):2336-2346.
[6]
V
E
Kimonis , A
M
Goldstein, B
Pastakia, M
L
Yang, R
Kase, J
J
DiGiovanna, A
E
Bale, S
J Bale. Clinical manifestations in 105 persons with nevoid basal cell
carcinoma syndrome. Am J Med Genet.1997;31;69(3):299-308.
[7]
Jamie
L
Mull , Lisa
M
Madden , Susan
J Bayliss . Myelodysplastic Syndrome Occurring in a
Patient with Gorlin Syndrome. Pediatr Dermatol. 2016;33(4):e256-7.
[8]
Ahmed-Ramadan
Sadek , Girish
Vajramani , Simon
Barker , Mark
Walker , Colin
Kennedy , Ali
Nader-Sepahi. Multiple spinal osteochondromata and
osteosarcoma in a patient with Gorlin’s syndrome. Clin Neurol
Neurosurg. 2014;118:5-8.
[9]
Ying
Wang , Jingchuan
Wu , Wei
Li , Jiankang
Li , Raynald
Liu , Bao
Yang , Chunde
Li, Tao
Jiang. Retrospective investigation of hereditary
syndromes in patients with medulloblastoma in a single institution.
Childs Nerv Syst. 2021;37(2):411-417.
[10]
Lorenzo
Lo Muzio. Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
Orphanet J Rare Dis. 2008 Nov 25;3:32.
[11] Surun A, Varlet P, Brugières L, Lacour B, Faure-Conter C,
Leblond P, Bertozzi-Salomon AI, Berger C, André N, Sariban E, Raimbault
S, Prieur F, Desseigne F, Zattara H, Guimbaud R, Polivka M, Delisle MB,
Vasiljevic A, Maurage CA, Figarella-Branger D, Coulet F,
Guerrini-Rousseau L, Alapetite C, Dufour C, Colas C, Doz F, Bourdeaut F.
Medulloblastomas associated with
an APC germline pathogenic variant share the good prognosis of
CTNNB1-mutated medulloblastomas. Neuro Oncol. 2020;22(1):128-138