Publications:

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

American Journal Of Medical Genetics. Part A

Musante, Luciana L; Faletra, Flavio F; Meier, Kolja K; Tomoum, Hoda H; Najarzadeh Torbati, Paria P; Blair, Edward E; North, Sally S; Gärtner, Jutta J; Diegmann, Susann S; Beiraghi Toosi, Mehran M; Ashrafzadeh, Farah F; Ghayoor Karimiani, Ehsan E; Murphy, David D; Murru, Flora Maria FM; Zanus, Caterina C; Magnolato, Andrea A; La Bianca, Martina M; Feresin, Agnese A; Girotto, Giorgia G; Gasparini, Paolo P; Costa, Paola P; Carrozzi, Marco M

Publication Date: 2022-09

Variant appearance in text: CREBBP: 6188C>G; Ser2063*

PubMed Link: 35670379

Variant Present in the following documents:

• AJMG-188-2652-s001.xlsx, sheet 3

View BVdb publication page

Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Children (Basel, Switzerland)

Sima, Aurora A; Smădeanu, Roxana Elena RE; Simionescu, Anca Angela AA; Nedelea, Florina F; Vlad, Andreea-Maria AM; Becheanu, Cristina C

Publication Date: 2022-05-22

Variant appearance in text: CREBBP: 6188C>G

PubMed Link: 35626936

Variant Present in the following documents:

• children-09-00759.pdf

View BVdb publication page