Etiology
Hon KL,
Chu S,
Leung AKC
Curr Pediatr Rev
2022;18(3):182-190.
doi: 10.2174/1573396317666210525161252.
PMID: 34036913
Wallmeier J,
Nielsen KG,
Kuehni CE,
Lucas JS,
Leigh MW,
Zariwala MA,
Omran H
Nat Rev Dis Primers
2020 Sep 17;6(1):77.
doi: 10.1038/s41572-020-0209-6.
PMID: 32943623
Radlović N
Srp Arh Celok Lek
2012 Mar-Apr;140(3-4):244-9.
PMID: 22650116
Harteveld CL,
Higgs DR
Orphanet J Rare Dis
2010 May 28;5:13.
doi: 10.1186/1750-1172-5-13.
PMID: 20507641Free PMC Article
Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5.
PMID: 19232111Free PMC Article
Diagnosis
Hon KL,
Chu S,
Leung AKC
Curr Pediatr Rev
2022;18(3):182-190.
doi: 10.2174/1573396317666210525161252.
PMID: 34036913
Klopstock T,
Priglinger C,
Yilmaz A,
Kornblum C,
Distelmaier F,
Prokisch H
Dtsch Arztebl Int
2021 Nov 5;118(44):741-748.
doi: 10.3238/arztebl.m2021.0251.
PMID: 34158150Free PMC Article
Radlović N
Srp Arh Celok Lek
2012 Mar-Apr;140(3-4):244-9.
PMID: 22650116
Harteveld CL,
Higgs DR
Orphanet J Rare Dis
2010 May 28;5:13.
doi: 10.1186/1750-1172-5-13.
PMID: 20507641Free PMC Article
Stark Z,
Savarirayan R
Orphanet J Rare Dis
2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5.
PMID: 19232111Free PMC Article
Therapy
Elshafey MA,
Abdrabo MS,
Elnaggar RK
J Musculoskelet Neuronal Interact
2022 Jun 1;22(2):172-178.
PMID: 35642697Free PMC Article
Skokowa J,
Dale DC,
Touw IP,
Zeidler C,
Welte K
Nat Rev Dis Primers
2017 Jun 8;3:17032.
doi: 10.1038/nrdp.2017.32.
PMID: 28593997Free PMC Article
El-Maouche D,
Arlt W,
Merke DP
Lancet
2017 Nov 11;390(10108):2194-2210.
Epub 2017 May 30
doi: 10.1016/S0140-6736(17)31431-9.
PMID: 28576284
Singh S,
Bittner V
Curr Atheroscler Rep
2015;17(2):482.
doi: 10.1007/s11883-014-0482-5.
PMID: 25612857
Lunn MR,
Wang CH
Lancet
2008 Jun 21;371(9630):2120-33.
doi: 10.1016/S0140-6736(08)60921-6.
PMID: 18572081
Prognosis
Hon KL,
Chu S,
Leung AKC
Curr Pediatr Rev
2022;18(3):182-190.
doi: 10.2174/1573396317666210525161252.
PMID: 34036913
El-Maouche D,
Arlt W,
Merke DP
Lancet
2017 Nov 11;390(10108):2194-2210.
Epub 2017 May 30
doi: 10.1016/S0140-6736(17)31431-9.
PMID: 28576284
McGovern MM,
Avetisyan R,
Sanson BJ,
Lidove O
Orphanet J Rare Dis
2017 Feb 23;12(1):41.
doi: 10.1186/s13023-017-0572-x.
PMID: 28228103Free PMC Article
Kousi M,
Lehesjoki AE,
Mole SE
Hum Mutat
2012 Jan;33(1):42-63.
Epub 2011 Nov 16
doi: 10.1002/humu.21624.
PMID: 21990111
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Clinical prediction guides
Elshafey MA,
Abdrabo MS,
Elnaggar RK
J Musculoskelet Neuronal Interact
2022 Jun 1;22(2):172-178.
PMID: 35642697Free PMC Article
Cornelis SS,
Runhart EH,
Bauwens M,
Corradi Z,
De Baere E,
Roosing S,
Haer-Wigman L,
Dhaenens CM,
Vulto-van Silfhout AT,
Cremers FPM
Am J Hum Genet
2022 Mar 3;109(3):498-507.
Epub 2022 Feb 3
doi: 10.1016/j.ajhg.2022.01.008.
PMID: 35120629Free PMC Article
Hon KL,
Chu S,
Leung AKC
Curr Pediatr Rev
2022;18(3):182-190.
doi: 10.2174/1573396317666210525161252.
PMID: 34036913
Kousi M,
Lehesjoki AE,
Mole SE
Hum Mutat
2012 Jan;33(1):42-63.
Epub 2011 Nov 16
doi: 10.1002/humu.21624.
PMID: 21990111
Harteveld CL,
Higgs DR
Orphanet J Rare Dis
2010 May 28;5:13.
doi: 10.1186/1750-1172-5-13.
PMID: 20507641Free PMC Article