Page 59 - GPD-1-1
P. 59
Gene & Protein in Disease Bangladesh genetic disease database
polymorphisms of four Bangladeshi individuals and their https://doi.org/10.3329/birdem.v9i2.41284
functional significance. BMC Res Notes, 14(1): 105.
23. Ahmed SN, Shahin MA, Chowdhury R, et al., 2015, A
https://doi.org/10.1186/s13104-021-05514-x 13-year-old female with Bardet-Biedl Syndrome - A case
report. Bangladesh J Med, 26(1): 31–34.
12. Akter H, Hossain MS, Dity NJ, et al., Whole exome
sequencing uncovered highly penetrant recessive mutations https://doi.org/10.3329/bjmed.v26i1.25651
for a spectrum of rare genetic pediatric diseases in 24. Wahiduzzaman M, Rahim MA, Iftekhar M, 2018, Bardet-
Bangladesh. NPJ Genomic Med, 6(1): 14. Biedl syndrome: A case report. BIRDEM Med J, 8(2):
https://doi.org/10.1038/s41525-021-00173-0 184–186.
13. Tahsin T, Zabeen N, Salsabil N, et al., 2020, Skeletal dysplasia: https://doi.org/10.3329/birdem.v8i2.36661
A series of five cases of Bangladesh demonstrating classical 25. Bhuiyan ZA, 2021, Sudden cardiac death and
achondroplasia. Int J Biosci, 16(3): 384–388. catecholaminergic polymorphic ventricular tachycardia:
https://doi.org/10.12692/ijb/16.3.384-388 What genetic medicine could offer. Cardiovasc J, 13(2):
106–111.
14. Hamid F, Roy PC, 2013, Attention deficit hyperactivity
disorder improved with Methylphenidate: A case report. https://doi.org/10.3329/cardio.v13i2.52963
Chattagram Maa-O-Shishu Hosp Med Coll J, 12(2): 52–55. 26. Rahman M, Bhuiyan AK, Islam A, 2018, Cutis Laxa
https://doi.org/10.11566/cmoshmcj.v12i2.41 syndrome : A rare genetic disorder of elastolysis. Dhaka
Shishu Hosp J, 34: 59–62.
15. Hasan CM, Islam M, Mahib MR, et al., 2016, Prevalence and
assessment of biochemical parameters of attention-deficit https://doi.org/10.3329/dshj.v34i1.51831
hyperactivity disorder children in Bangladesh. J Basic Clin 27. Fatmi LE, Haque MS, Mollah AH, et al., 2021, Cutis laxa:
Pharm, 7(3): 70. A case report and an update. Mymensingh Med J, 19(1):
https://doi.org/10.4103/0976-0105.183261 137–41.
16. Newaz F, Jashimuddin J, Nuery N, et al., 2019, A case of 28. Yasmin A, Janan N, Akhter R, 2009, Assessment of colour
adrenoleucodystrophy: Newer challenge to rehabilitation. blindness and erythrocyte G6PD enzyme status among the
Bangladesh Med J, 48(2): 48–50. school children of Dhaka City. J Bangladesh Soc Physiol,
4(2): 64–70.
https://doi.org/10.3329/bmj.v48i2.51294
https://doi.org/10.3329/jbsp.v4i2.4175
17. Mondol MB, Siddiqui MM, Wahab L, et al., 2010,
Adrenoleukodystrophy: A rare case report. J Bangladesh 29. Islam MS, Roy P, Shehreen S, 2016, Prevalence of colour
Coll Physicians Surg, 28(3): 189–192. blindness in young Bangladeshis. Dhaka Univ J Biol Sci,
25(2): 201–205.
https://doi.org/10.3329/jbcps.v28i3.6514
https://doi.org/10.3329/dujbs.v25i2.46342
18. Kundu GK, Rahman MM, Amin MR, et al., 2015,
Adrenoleukodystrophy: Two case reports. Bangladesh Med 30. Rahman MM, Fatema K, 2021, Case report of cerebral
J, 44(3): 168–171. creatine deficiency syndrome with novel mutation of
SLC6A8 gene in a male child in Bangladesh. J Genet Med,
https://doi.org/10.3329/bmj.v44i3.27379 18(1): 44–47.
19. Rahman MH, Khan MK, Miah MA, et al., 2012, Bart’s https://doi.org/10.5734/JGM.2021.18.1.44
syndrome: A rare genetic disorder. Community Based Med
J, 1(2): 48–50. 31. Kabir MA, Deepa ZS, Zubery MH, 2020, Crouzon
syndrome - A case report of rare genetic disorder with
https://doi.org/10.3329/cbmj.v1i2.13863 review of literature. Bangladesh J Radiol Imaging, 28(2):
20. Hossain K, Badruddoza M, 2013, Bardet-Bidel syndrome: 98–101.
A case report. Chattagram Maa-O-Shishu Hosp Med Coll J, 32. Kibtiar M, Akther R, Islam MM, et al., Congenital
12(3): 67–69. hypotrichosis simplex: A case report. Bangladesh J Child
https://doi.org/10.3329/cmoshmcj.v12i3.16719 Health, 43(1): 59–61.
21. Haque MM, Shultana K, Matin TB, et al., 2019, Laurence- https://doi.org/10.3329/bjch.v43i1.41219
Moon-Bardet-Biedl Syndrome: A case report. Paediatr 33. Fatema K, Rahman MM, Akhter S, 2020, Cockayne
Indones, 59(6): 349–52. syndrome with ERCC8 gene mutation: A case report.
Bangladesh J Child Health, 44(3): 181–183.
https://doi.org/10.14238/pi59.6.2019.349-52
https://doi.org/10.3329/bjch.v44i3.52713
22. Nabi MM, Pathan MF, Barua M, 2019, Bardet Biedl
Syndrome: A case report. BIRDEM Med J, 9(2): 162–164. 34. Mohammed FR, Chowdhury F, Nur Z, et al., 2010, A case of
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