✦ LIBER ✦

A new NF1 variant in a patient with atypical manifestations

✍ Scribed by Onitilo, Adedayo A.; Engel, Jessica M.

Book ID: 118751203
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 193 KB
Volume: 161
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35728

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

An histologically atypical NF-type 1 pat

An histologically atypical NF-type 1 patient with a new pathogenic mutation

✍ Giovanni Bianco, Giuseppe Greco, Manila Antonelli, Stefania Casali, Cinzia Casta 📂 Article 📅 2012 🏛 Springer Milan 🌐 English ⚖ 296 KB

FECHTNER SYNDROME VARIANT: A NEW FAMILY

FECHTNER SYNDROME VARIANT: A NEW FAMILY WITH MILD ALPORT'S MANIFESTATIONS

✍ Núria Pujol-Moix; Eduardo Muñiz-Diaz; Angel Hernandez; M. Angels Romero; Jordi P 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB

A case report of Löfgren's syndrome (a v

A case report of Löfgren's syndrome (a variant of sarcoidosis) with atypical manifestations in a Taiwan Chinese man

✍ Che-Min Lin; Chia-Hung Li; Chi-Ting Horng; Da-Wen Lu; Chun-Ling Hung; Ming-Ling 📂 Article 📅 2012 🏛 Medknow Publications 🌐 English ⚖ 413 KB

A variant t(8;10;21) in a patient with p

A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia

✍ Jiyun Lee; William F. Kern; Joan B. Cain; John J. Mulvihill; Shibo Li 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 323 KB

Homozygous inactivation of NF1 gene in a

Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma

✍ Origone, Paola ;Defferrari, Raffaella ;Mazzocco, Katia ;Cunsolo, Crocifissa Lo ; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB

## Abstract Neurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. The mother had café‐au‐lait spots suggesting a familial NF1. Neuroblastoma cells

Profile of hepatitis A infection with at

Profile of hepatitis A infection with atypical manifestations in children

✍ Tryambak Samanta; Anjan Kumar Das; Sutapa Ganguly 📂 Article 📅 2010 🏛 Springer-Verlag 🌐 English ⚖ 81 KB