Genetic Screening / Counselling

Atypical morphological variants of congenital cataract in Down’s syndrome
Sudarshan Khokhar, Mousumi Banerjee, Sandton Jayakumari Simon Raj, Shweta Sandhu

BMJ Case Reports CP May 2021, 14 (5) e242759; DOI: 10.1136/bcr-2021-242759
Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene
Nisha Gupta, Thomas Kitzler, Steffen Albrecht, Vincent Larouche

BMJ Case Reports CP Apr 2021, 14 (4) e241886; DOI: 10.1136/bcr-2021-241886
PIEZO1 mutation: a rare aetiology for fetal ascites
Helen Stolyar, Teresa Berry, Amit Pal Singh, Ichhcha Madan

BMJ Case Reports CP Apr 2021, 14 (4) e240682; DOI: 10.1136/bcr-2020-240682
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy
Deepa Balachandran Nair, Mariana Bloomfield, Rajeswari Parasuraman, David T Howe

BMJ Case Reports CP Apr 2021, 14 (4) e235111; DOI: 10.1136/bcr-2020-235111
Pigmented hypertrichotic dermatosis: manifestations of a rare syndrome
Sanae Sialiti, Siham Mansouri, Mehdi Khallaayoune, Karima Senouci

BMJ Case Reports CP Apr 2021, 14 (4) e241838; DOI: 10.1136/bcr-2021-241838
Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient
Stavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos Vlahos

BMJ Case Reports CP Mar 2021, 14 (3) e241251; DOI: 10.1136/bcr-2020-241251
Late survival in Ellis-van Creveld syndrome with common single atrium
Kesar Prajapati, Jaya Pathak, Vikranti Sailor, Parth Adrejiya

BMJ Case Reports CP Mar 2021, 14 (3) e239663; DOI: 10.1136/bcr-2020-239663
Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement
Ataf Sabir, Gabriella Parry, Tricia Heaton, Kai Ren Ong

BMJ Case Reports CP Mar 2021, 14 (3) e236768; DOI: 10.1136/bcr-2020-236768
Recurrent fetal triploidy: is there a genetic cause?
Andreia Fontoura Oliveira, Maria Manuel Torrão, Rosete Nogueira, Manuela Ferreira

BMJ Case Reports CP Mar 2021, 14 (3) e239843; DOI: 10.1136/bcr-2020-239843
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy
Gautam Sen, Eleanor Barendt, Manas Sinha

BMJ Case Reports CP Feb 2021, 14 (2) e237604; DOI: 10.1136/bcr-2020-237604

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Genetic Screening / Counselling

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