Genetic Screening / Counselling

Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins
Tachjaree Panchalee, Pornpimol Ruangvutilert, Pattarawan Limsiri, Pavit Sutcharitpongsa

Case Reports Oct 2018, 2018 bcr-2018-224362; DOI: 10.1136/bcr-2018-224362
APRT deficiency: the need for early diagnosis
Aamira Huq, Kushma Nand, Rajiv Juneja, Ingrid Winship

Case Reports Oct 2018, 2018 bcr-2018-225742; DOI: 10.1136/bcr-2018-225742
Lady with ‘lobster claw’ feet
Amani Aman, Louis Darby, Muhammad Javaid Hameed Rahmani

Case Reports Oct 2018, 2018 bcr-2018-226368; DOI: 10.1136/bcr-2018-226368
A case of young diabetes and parasuicide
Sailesh Lodha, Liza Das, Ghanshyam das Ramchandani, Anil Bhansali

Case Reports Sep 2018, 2018 bcr-2018-225839; DOI: 10.1136/bcr-2018-225839
Genetic testing for a patient with suspected familial hypercholesterolaemia
Venugopal Mudgundi, Geoffrey Williams, Katherine Manou, Robert Block

Case Reports Jul 2018, 2018 bcr-2018-225259; DOI: 10.1136/bcr-2018-225259
Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine
Zhen A Lu, Weiyi Mu, Lauren M Osborne, Zachary A Cordner

Case Reports Jul 2018, 2018 bcr-2018-225119; DOI: 10.1136/bcr-2018-225119
Late-onset TNF receptor-associated periodic syndrome presenting as recurrent urticarial rash and lymph nodes
Halil Yildiz, Stoian Ioana Andreea, Diane Declaye, Jean Cyr Yombi

Case Reports Jun 2018, 2018 bcr-2018-225938; DOI: 10.1136/bcr-2018-225938
Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome
Jason Ramsingh, Carol Watson

Case Reports Jun 2018, 2018 bcr-2018-224283; DOI: 10.1136/bcr-2018-224283
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis
Andoni Echaniz-Laguna, Valérie Biancalana, Pauline Gaignard, Jean-Baptiste Chanson

Case Reports Jun 2018, 2018 bcr-2018-224272; DOI: 10.1136/bcr-2018-224272
Differential diagnosis for chronic hypokalaemia
Laura Stimson, Tim Reynolds

Case Reports Jun 2018, 2018 bcr-2017-223680; DOI: 10.1136/bcr-2017-223680

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Genetic Screening / Counselling

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