Case of mandibuloacral dysplasia with type B lipodystrophy
Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confi...
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Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_65f6f836692142e19ef5fbff6382f7d4 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Sanober Burzin Daruwalla |e author |
| 700 | 1 | 0 | |a Rachita S Dhurat |e author |
| 700 | 1 | 0 | |a Smita Ghate |e author |
| 700 | 1 | 0 | |a Rutuja Arali |e author |
| 245 | 0 | 0 | |a Case of mandibuloacral dysplasia with type B lipodystrophy |
| 260 | |b Wolters Kluwer Medknow Publications, |c 2021-01-01T00:00:00Z. | ||
| 500 | |a 2319-7250 | ||
| 500 | |a 10.4103/ijpd.IJPD_77_20 | ||
| 520 | |a Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confirmed case of MAD Type B in a two year-old boy born out of second degree consanguinity. Discussion: The report aims to increase awareness of the rare condition and emphasize the utility of genetic analysis in differentiating it from other differentials with a phenotypic overlap. | ||
| 546 | |a EN | ||
| 690 | |a lamin type a | ||
| 690 | |a lamin c | ||
| 690 | |a child | ||
| 690 | |a progeria | ||
| 690 | |a mandibuloacral dysplasia with type b lipodystrophy | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Indian Journal of Paediatric Dermatology, Vol 22, Iss 4, Pp 349-351 (2021) | |
| 787 | 0 | |n http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=4;spage=349;epage=351;aulast=Daruwalla | |
| 787 | 0 | |n https://doaj.org/toc/2319-7250 | |
| 856 | 4 | 1 | |u https://doaj.org/article/65f6f836692142e19ef5fbff6382f7d4 |z Connect to this object online. |