PMID- 34513876
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210914
IS  - 2296-858X (Print)
IS  - 2296-858X (Electronic)
IS  - 2296-858X (Linking)
VI  - 8
DP  - 2021
TI  - Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare 
      Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 
      Variants.
PG  - 708717
LID - 10.3389/fmed.2021.708717 [doi]
LID - 708717
AB  - Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) 
      gene have recently been described in about 50 patients with developmental delay 
      and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further 
      the clinical and genetic spectrum associated with TRAF7 germline variants in two 
      additional patients, broaden the mutational spectrum, and support the 
      characteristic clinical variety to facilitate the diagnostics of the syndrome 
      among physician involved in the evaluation of patients with developmental 
      delay/congenital malformations.
CI  - Copyright (c) 2021 Paprocka, Nowak, Niec, Janik, Rydzanicz, Robert, Klaniewska, 
      Rutkowska, Ploski and Jezela-Stanek.
FAU - Paprocka, Justyna
AU  - Paprocka J
AD  - Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, 
      Medical University of Silesia, Katowice, Poland.
FAU - Nowak, Magdalena
AU  - Nowak M
AD  - Students' Scientific Society, Department of Pediatric Neurology, Faculty of 
      Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
FAU - Niec, Maria
AU  - Niec M
AD  - Students' Scientific Society, Department of Pediatric Neurology, Faculty of 
      Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
FAU - Janik, Izabela
AU  - Janik I
AD  - Students' Scientific Society, Department of Pediatric Neurology, Faculty of 
      Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
FAU - Rydzanicz, Malgorzata
AU  - Rydzanicz M
AD  - Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
FAU - Robert, Smigiel
AU  - Robert S
AD  - Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare 
      Disorders, Wroclaw Medical University, Wroclaw, Poland.
FAU - Klaniewska, Magdalena
AU  - Klaniewska M
AD  - Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare 
      Disorders, Wroclaw Medical University, Wroclaw, Poland.
FAU - Rutkowska, Karolina
AU  - Rutkowska K
AD  - Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
FAU - Ploski, Rafal
AU  - Ploski R
AD  - Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
FAU - Jezela-Stanek, Aleksandra
AU  - Jezela-Stanek A
AD  - Department of Genetics and Clinical Immunology, National Institute of 
      Tuberculosis and Lung Diseases, Warsaw, Poland.
LA  - eng
PT  - Case Reports
DEP - 20210826
PL  - Switzerland
TA  - Front Med (Lausanne)
JT  - Frontiers in medicine
JID - 101648047
PMC - PMC8428514
OTO - NOTNLM
OT  - TRAF7 variants
OT  - blepharophimosis
OT  - developmental delay
OT  - dysmorphic features
OT  - facial features
OT  - ptosis
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/09/14 06:00
MHDA- 2021/09/14 06:01
PMCR- 2021/08/26
CRDT- 2021/09/13 06:56
PHST- 2021/05/12 00:00 [received]
PHST- 2021/07/27 00:00 [accepted]
PHST- 2021/09/13 06:56 [entrez]
PHST- 2021/09/14 06:00 [pubmed]
PHST- 2021/09/14 06:01 [medline]
PHST- 2021/08/26 00:00 [pmc-release]
AID - 10.3389/fmed.2021.708717 [doi]
PST - epublish
SO  - Front Med (Lausanne). 2021 Aug 26;8:708717. doi: 10.3389/fmed.2021.708717. 
      eCollection 2021.