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Volume 29; Issue 2
Main
Clinical Dysmorphology
Volume 29; Issue 2
Clinical Dysmorphology
Volume 29; Issue 2
1
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
Steel, Edward
,
Hurst, Jane A
,
Cullup, Thomas
,
Calder, Alistair
,
Sivakumar, Branavan
,
Shah, Pratik
,
Wilson, Louise C
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 670 KB
Your tags:
2020
2
Phenotypic variability in Muenke syndrome-observations from five Danish families
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 188 KB
Your tags:
2020
3
Absent digit in Russell-Silver syndrome
Strong, Alanna
,
McDougall, Carey
,
Zackai, Elaine
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 262 KB
Your tags:
2020
4
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion
Pelle, Alessandra
,
Modena, Piergiorgio
,
Cavallini, Anna
,
Selicorni, Angelo
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 301 KB
Your tags:
2020
5
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Sumathipala, Dulika S.
,
Misceo, Doriana
,
Larsen, Selma Mujezinovic
,
Barøy, Tuva
,
Gamage, Thilini H.
,
Frengen, Eirik
,
Strømme, Petter
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 424 KB
Your tags:
2020
6
Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children
Cao, Lirong
,
Wang, Yizheng
,
Zhao, Linsheng
,
Hu, Xiaoli
,
Cai, Chunquan
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 484 KB
Your tags:
2020
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