Literature DB >> 32433043

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Ingrid Anne Mandy Schierz1, Gregorio Serra1, Vincenzo Antona1, Ivana Persico2, Giovanni Corsello1, Ettore Piro1.   

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Year:  2020        PMID： 32433043     DOI： 10.1097/MCD.0000000000000325

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Authors:  Gregorio Serra; Luigi Memo; Alessandra Coscia; Mario Giuffré; Ambra Iuculano; Mariano Lanna; Diletta Valentini; Anna Contardi; Sauro Filippeschi; Tiziana Frusca; Fabio Mosca; Luca A Ramenghi; Corrado Romano; Annalisa Scopinaro; Alberto Villani; Giuseppe Zampino; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2021-04-19       Impact factor: 2.638

2.  Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Authors:  Gregorio Serra; Vincenzo Antona; Chiara Cannata; Mario Giuffrè; Ettore Piro; Ingrid Anne Mandy Schierz; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-07-29       Impact factor: 3.288

3.  Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Authors:  Gregorio Serra; Clara Giambrone; Vincenzo Antona; Francesca Cardella; Maurizio Carta; Marcello Cimador; Giovanni Corsello; Mario Giuffrè; Vincenzo Insinga; Maria Cristina Maggio; Marco Pensabene; Ingrid Anne Mandy Schierz; Ettore Piro
Journal:  Ital J Pediatr       Date:  2022-09-08       Impact factor: 3.288
  3 in total

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